ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1137C>T (p.Phe379=)

gnomAD frequency: 0.00004  dbSNP: rs780582849
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001409172 SCV001611186 likely benign Hypohidrotic X-linked ectodermal dysplasia 2023-04-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001409172 SCV002087209 likely benign Hypohidrotic X-linked ectodermal dysplasia 2021-06-18 no assertion criteria provided clinical testing

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