ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1173G>A (p.Pro391=)

dbSNP: rs376636032
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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 RCV002136271 SCV002464346 likely benign Dilated Cardiomyopathy, Recessive 2022-04-17 criteria provided, single submitter clinical testing

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