ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.519G>A (p.Gln173=)

dbSNP: rs2148361019
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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 RCV001410557 SCV001612607 likely benign Dilated Cardiomyopathy, Recessive 2024-01-22 criteria provided, single submitter clinical testing

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