ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.762G>A (p.Lys254=)

gnomAD frequency: 0.00429  dbSNP: rs115870061
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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 RCV000553309 SCV000652794 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000603200 SCV000714529 benign not specified 2017-09-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV003437274 SCV004154306 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003437274 SCV005241087 benign not provided criteria provided, single submitter not provided

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