ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.700-48A>G

gnomAD frequency: 0.88264  dbSNP: rs2018621
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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 RCV000251823 SCV000311761 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000830135 SCV000971870 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 RCV001789296 SCV002031750 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789294 SCV002031751 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789295 SCV002031752 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000830135 SCV005324320 benign not provided criteria provided, single submitter not provided

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