ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.800C>G (p.Ser267Ter)

dbSNP: rs2147516267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576911 SCV001804188 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016)
Fulgent Genetics, Fulgent Genetics RCV005040327 SCV005678179 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia; Tooth agenesis, selective, X-linked, 1 2024-02-20 criteria provided, single submitter clinical testing

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