ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.-43C>T

dbSNP: rs2936818
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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 RCV000247920 SCV000315002 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000247920 SCV000519416 benign not specified 2016-01-11 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.
Genome-Nilou Lab RCV001789311 SCV002031732 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789312 SCV002031733 benign Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708162 SCV005241089 benign not provided criteria provided, single submitter not provided

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