ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.162G>C (p.Leu54=)

dbSNP: rs199666070
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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 RCV002086254 SCV002422431 likely benign Dilated Cardiomyopathy, Recessive 2022-10-17 criteria provided, single submitter clinical testing

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