ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2535C>G (p.Leu845=)

gnomAD frequency: 0.00002  dbSNP: rs368350011
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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 RCV001502293 SCV001707122 likely benign Dilated Cardiomyopathy, Recessive 2022-01-23 criteria provided, single submitter clinical testing

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