ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.561C>T (p.His187=)

gnomAD frequency: 0.00059  dbSNP: rs147429438
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243718 SCV000315007 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000243718 SCV000596520 uncertain significance not specified 2015-08-13 criteria provided, single submitter clinical testing
Invitae RCV000550321 SCV000652788 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000243718 SCV000726297 likely benign not specified 2018-01-05 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 RCV002512071 SCV002821184 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing POMGNT2: BP4, BP7

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