NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg) AND Congenital heart defects and ectodermal dysplasia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001198618.2
Allele description [Variation Report for NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)]
NM_002742.3(PRKD1):c.1456G>A (p.Gly486Arg)
Condition(s)
Assertion and evidence details
Last Updated: Feb 7, 2023