ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1083C>T (p.Ala361=)

gnomAD frequency: 0.00002  dbSNP: rs780464771
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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 RCV001517348 SCV001725828 benign Hypohidrotic X-linked ectodermal dysplasia 2023-08-08 criteria provided, single submitter clinical testing

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