ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.277C>T (p.Leu93Phe)

gnomAD frequency: 0.00003  dbSNP: rs746479442
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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 RCV001521316 SCV001730637 benign Hypohidrotic X-linked ectodermal dysplasia 2024-02-01 criteria provided, single submitter clinical testing

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