ClinVar Miner

Submissions for variant NM_016938.5(EFEMP2):c.129T>C (p.Tyr43=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005186137 SCV005825869 likely benign Cutis laxa, autosomal recessive, type 1B 2024-04-15 criteria provided, single submitter clinical testing

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