ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1956C>T (p.Ala652=)

gnomAD frequency: 0.00003  dbSNP: rs373293972
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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 RCV000966522 SCV001113856 likely benign Dilated Cardiomyopathy, Recessive 2023-12-09 criteria provided, single submitter clinical testing

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