ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.870C>T (p.Ser290=)

gnomAD frequency: 0.00007  dbSNP: rs760869403
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000952222 SCV001098706 likely benign Hypohidrotic X-linked ectodermal dysplasia 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV000952222 SCV002087203 likely benign Hypohidrotic X-linked ectodermal dysplasia 2020-04-11 no assertion criteria provided clinical testing

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