ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.588C>T (p.Gly196=)

gnomAD frequency: 0.00002  dbSNP: rs755425952
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874003 SCV001016116 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2022-08-23 criteria provided, single submitter clinical testing
GeneDx RCV001585842 SCV001819585 likely benign not provided 2020-05-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001585842 SCV004154307 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV001585842 SCV005260756 likely benign not provided criteria provided, single submitter not provided

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