ClinVar Miner

Submissions for variant NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=)

gnomAD frequency: 0.00093  dbSNP: rs116565708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558784 SCV000659661 benign Dilated Cardiomyopathy, Recessive 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962621 SCV004781585 likely benign PLEKHM2-related condition 2021-01-18 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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