NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser) AND Bethlem myopathy 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001337680.6
Allele description [Variation Report for NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)]
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024