ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.161-13C>A

dbSNP: rs771655821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001555039 SCV001776389 likely benign not provided 2020-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771699 SCV004670939 likely benign Cutis laxa, autosomal recessive, type 1B 2023-12-30 criteria provided, single submitter clinical testing

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