NM_002913.5(RFC1):c.398A>G (p.Asn133Ser) AND Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 5, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331820.1
Allele description [Variation Report for NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)]
NM_002913.5(RFC1):c.398A>G (p.Asn133Ser)
Condition(s)
Assertion and evidence details
Last Updated: Aug 15, 2022