NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) AND Ellis-van Creveld syndrome
- Germline classification:
- Benign (2 submissions)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000289860.14
Allele description [Variation Report for NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)]
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024