ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.879G>A (p.Leu293=)

gnomAD frequency: 0.00001  dbSNP: rs746437230
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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 RCV002207520 SCV002365136 benign Hypohidrotic X-linked ectodermal dysplasia 2021-10-25 criteria provided, single submitter clinical testing

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