ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.234T>A (p.Leu78=)

dbSNP: rs1569272277
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001461311 SCV001665210 likely benign Hypohidrotic X-linked ectodermal dysplasia 2023-05-14 criteria provided, single submitter clinical testing

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