NM_001184.4(ATR):c.6259A>G (p.Met2087Val) AND Seckel syndrome 1
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Feb 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987343.6
Allele description [Variation Report for NM_001184.4(ATR):c.6259A>G (p.Met2087Val)]
NM_001184.4(ATR):c.6259A>G (p.Met2087Val)
Condition(s)
Assertion and evidence details
Last Updated: Apr 9, 2023