ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1014G>A (p.Thr338=)

gnomAD frequency: 0.00003  dbSNP: rs750674219
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518214 SCV001726871 benign Hypohidrotic X-linked ectodermal dysplasia 2021-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001518214 SCV002087205 likely benign Hypohidrotic X-linked ectodermal dysplasia 2020-08-18 no assertion criteria provided clinical testing

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