ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1986+13C>T

gnomAD frequency: 0.00058  dbSNP: rs201099827
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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 RCV002106036 SCV002438004 likely benign Dilated Cardiomyopathy, Recessive 2023-11-27 criteria provided, single submitter clinical testing

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