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Items: 3

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:190925077
GRCh38:
Chr2:190060351
MSTN, C2orf88Muscle hypertrophy, Myostatin-related muscle hypertrophyConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr2:190926945
GRCh38:
Chr2:190062219
MSTN, C2orf88Muscle hypertrophyPathogenic
(Jul 3, 2013)
no assertion criteria provided
3.
GRCh37:
Chr2:190927160
GRCh38:
Chr2:190062434
MSTN, C2orf88Muscle hypertrophy, Myostatin-related muscle hypertrophyBenign
(Jun 14, 2016)
criteria provided, single submitter
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