ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)

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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 RCV003522345 SCV004276022 benign Hypohidrotic X-linked ectodermal dysplasia 2024-05-20 criteria provided, single submitter clinical testing

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