ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.1677C>T (p.Ser559=)

gnomAD frequency: 0.00034  dbSNP: rs200036096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000525693 SCV000659647 likely benign Dilated Cardiomyopathy, Recessive 2023-12-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952903 SCV004768203 likely benign PLEKHM2-related disorder 2021-05-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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