ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2075+20C>T

gnomAD frequency: 0.00001  dbSNP: rs1469594572
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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 RCV002202339 SCV002353917 likely benign Dilated Cardiomyopathy, Recessive 2021-11-07 criteria provided, single submitter clinical testing

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