ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.348C>T (p.Asp116=)

dbSNP: rs376350227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001493928 SCV001698573 likely benign Cutis laxa, autosomal recessive, type 1B 2022-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000537254 SCV001784532 likely benign not provided 2020-07-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323613 SCV004029166 likely benign not specified 2023-07-30 criteria provided, single submitter clinical testing

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