NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp) AND not specified
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004071651.1
Allele description [Variation Report for NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)]
NM_003640.5(ELP1):c.2188C>T (p.Arg730Trp)
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
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Last Updated: Sep 16, 2024