ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1296C>T (p.Pro432=)

dbSNP: rs1311897357
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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 RCV001454221 SCV001657942 likely benign Dilated Cardiomyopathy, Recessive 2018-10-14 criteria provided, single submitter clinical testing

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