ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.195A>G (p.Thr65=)

gnomAD frequency: 0.00012  dbSNP: rs199992681
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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 RCV000877746 SCV001020525 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2023-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002264039 SCV002544802 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7

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