ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.986+49G>A

gnomAD frequency: 0.88278  dbSNP: rs10901066
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244746 SCV000311725 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000833472 SCV000975235 benign not provided 2018-06-14 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 RCV001789287 SCV002031763 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789285 SCV002031765 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789286 SCV002031766 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833472 SCV005324397 benign not provided criteria provided, single submitter not provided

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