ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.798T>C (p.Leu266=)

dbSNP: rs2147516257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001814652 SCV002061380 likely pathogenic Hypohidrotic X-linked ectodermal dysplasia 2021-09-01 criteria provided, single submitter clinical testing PS3_very_strong (RNA study), PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001814652 SCV002382080 likely benign Hypohidrotic X-linked ectodermal dysplasia 2021-09-09 criteria provided, single submitter clinical testing

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