NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter) AND Autosomal recessive limb-girdle muscular dystrophy type 2Y
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001387848.9
Allele description [Variation Report for NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)]
NM_015602.4(TOR1AIP1):c.830C>G (p.Ser277Ter)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024