NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) AND Meckel syndrome, type 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272923.1
Allele description [Variation Report for NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)]
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024