ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.264C>T (p.Asn88=)

gnomAD frequency: 0.00001  dbSNP: rs572228301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001406431 SCV001608385 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-12-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711593 SCV005260759 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003900395 SCV004717051 likely benign POMGNT2-related disorder 2021-06-22 no assertion criteria provided 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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