ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.942-19C>G

gnomAD frequency: 0.00003  dbSNP: rs578031030
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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 RCV002149715 SCV002413445 likely benign Dilated Cardiomyopathy, Recessive 2023-03-20 criteria provided, single submitter clinical testing

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