ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.438A>T (p.Leu146=)

dbSNP: rs1571053374
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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 RCV001464461 SCV001668431 likely benign Dilated Cardiomyopathy, Recessive 2018-02-19 criteria provided, single submitter clinical testing

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