ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2139C>T (p.Ser713=)

dbSNP: rs2148376532
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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 RCV001427944 SCV001630635 likely benign Dilated Cardiomyopathy, Recessive 2019-02-19 criteria provided, single submitter clinical testing

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