ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1137G>A (p.Thr379=)

gnomAD frequency: 0.00010  dbSNP: rs377724350
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888473 SCV001032109 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910526 SCV004720005 likely benign POMGNT2-related condition 2023-09-01 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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