ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.642A>G (p.Pro214=)

gnomAD frequency: 0.00001  dbSNP: rs754313190
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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 RCV001403799 SCV001605684 likely benign Dilated Cardiomyopathy, Recessive 2024-01-08 criteria provided, single submitter clinical testing

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