ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2190C>T (p.Ala730=)

gnomAD frequency: 0.00001  dbSNP: rs1052497156
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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 RCV002215518 SCV002367212 likely benign Dilated Cardiomyopathy, Recessive 2021-05-03 criteria provided, single submitter clinical testing

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