NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Mar 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002308075.2
Allele description [Variation Report for NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)]
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2022