ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1494C>T (p.Ser498=)

gnomAD frequency: 0.00001  dbSNP: rs751826847
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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 RCV002129408 SCV002403520 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2022-07-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434420 SCV004154302 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7

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