ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.135T>C (p.Gly45=)

gnomAD frequency: 0.00002  dbSNP: rs766017052
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000938994 SCV001084827 likely benign Hypohidrotic X-linked ectodermal dysplasia 2023-06-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000938994 SCV002087191 likely benign Hypohidrotic X-linked ectodermal dysplasia 2020-09-01 no assertion criteria provided clinical testing

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