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Results: 32

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:30715392
GRCh38:
Chr16:30704071
SRCAPnot providedGMAF:0.00020(T)Uncertain significance
(Dec 2, 2014)
criteria provided, single submitter
2.
GRCh37:
Chr16:30715462
GRCh38:
Chr16:30704141
SRCAPFloating-Harbor syndromeGMAF:0.00100(T)Uncertain significance
(Mar 4, 2013)
criteria provided, single submitter
3.
GRCh37:
Chr16:30715519
GRCh38:
Chr16:30704198
SRCAPnot specifiedGMAF:0.02660(G)Benign
(Feb 8, 2013)
criteria provided, single submitter
4.
GRCh37:
Chr16:30723616
GRCh38:
Chr16:30712295
SRCAP, SNORA30Malignant melanomanot providedno assertion provided
5.
GRCh37:
Chr16:30732644
GRCh38:
Chr16:30721323
SRCAPnot specifiedGMAF:0.00140(T)Benign
(Mar 3, 2015)
criteria provided, single submitter
6.
GRCh37:
Chr16:30734963
GRCh38:
Chr16:30723642
SRCAPnot specifiedGMAF:0.01880(C)Benign
(Jun 10, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr16:30735038
GRCh38:
Chr16:30723717
SRCAPnot specifiedGMAF:0.00660(G)Benign
(Mar 4, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr16:30735100
GRCh38:
Chr16:30723779
SRCAPnot providedUncertain significance
(Jun 10, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr16:30735348
GRCh38:
Chr16:30724027
SRCAPFloating-Harbor syndrome, not specifiedGMAF:0.00320(G)Conflicting interpretations of pathogenicity
(Dec 18, 2014)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr16:30735868
GRCh38:
Chr16:30724547
SRCAPMalignant melanomanot providedno assertion provided
11.
GRCh37:
Chr16:30736048
GRCh38:
Chr16:30724727
SRCAPnot specifiedLikely benign
(Sep 3, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr16:30736276
GRCh38:
Chr16:30724955
SRCAPnot specifiedGMAF:0.00220(G)Likely benign
(Dec 15, 2014)
criteria provided, single submitter
13.
GRCh37:
Chr16:30736376
GRCh38:
Chr16:30725055
SRCAPnot specifiedGMAF:0.00260(G)Benign
(Jan 27, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr16:30736386
GRCh38:
Chr16:30725065
SRCAPMalignant melanomanot providedno assertion provided
15.
GRCh37:
Chr16:30747937
GRCh38:
Chr16:30736616
SRCAPFloating-Harbor syndromePathogenic
(Aug 22, 2014)
no assertion criteria provided
16.
GRCh37:
Chr16:30748534
GRCh38:
Chr16:30737213
SRCAPnot providedUncertain significance
(Feb 17, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr16:30748609
GRCh38:
Chr16:30737288
SRCAPnot providedGMAF:0.00120(T)Uncertain significance
(Apr 14, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr16:30748624
GRCh38:
Chr16:30737303
SRCAPnot specifiedGMAF:0.01480(A)Benign
(Feb 8, 2013)
criteria provided, single submitter
19.
GRCh37:
Chr16:30748664
GRCh38:
Chr16:30737343
SRCAPFloating-Harbor syndromePathogenic
(Aug 22, 2014)
no assertion criteria provided
20.
GRCh37:
Chr16:30748691
GRCh38:
Chr16:30737370
SRCAPFloating-Harbor syndromePathogenic
(Aug 22, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr16:30748910
GRCh38:
Chr16:30737589
SRCAPFloating-Harbor syndromePathogenic
(Aug 22, 2014)
no assertion criteria provided
22.
GRCh37:
Chr16:30748969
GRCh38:
Chr16:30737648
SRCAPMalignant melanomanot providedno assertion provided
23.
GRCh37:
Chr16:30749214
GRCh38:
Chr16:30737893
SRCAPnot providedGMAF:0.00020(G)Uncertain significance
(Sep 17, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr16:30749224
GRCh38:
Chr16:30737903
SRCAPFloating-Harbor syndromePathogenic
(Aug 22, 2014)
no assertion criteria provided
25.
GRCh37:
Chr16:30749354
GRCh38:
Chr16:30738033
SRCAPFloating-Harbor syndromePathogenic
(Nov 15, 2013)
criteria provided, single submitter
26.
GRCh37:
Chr16:30749741
GRCh38:
Chr16:30738420
SRCAPnot providedUncertain significance
(Mar 13, 2015)
criteria provided, single submitter
27.
GRCh37:
Chr16:30750116
GRCh38:
Chr16:30738795
SRCAPnot specifiedGMAF:0.00080(T)Likely benign
(Jul 3, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr16:30750805
GRCh38:
Chr16:30739484
SRCAPnot specifiedGMAF:0.00220(C)Benign
(May 26, 2015)
criteria provided, single submitter
29.
GRCh37:
Chr16:23763368-31955076
GRCh38:
Chr16:23752047-31943755
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
30.
GRCh37:
Chr16:27323067-31204727
GRCh38:
Chr16:27311746-31193406
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
31.
GRCh37:
Chr16:29920934-31450018
GRCh38:
Chr16:29909613-31438697
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
32.
GRCh37:
Chr16:30703233-35147508
GRCh38:
Chr16:30691912-35913137
See casesPathogenic
(Dec 30, 2009)
no assertion criteria provided

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