ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1082+16G>A

gnomAD frequency: 0.14451  dbSNP: rs59515295
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081476 SCV000113407 benign not specified 2012-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000081476 SCV000171152 benign not specified 2013-12-19 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.
Preventiongenetics, part of Exact Sciences RCV000081476 SCV000311727 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517754 SCV001726320 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789132 SCV002031770 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789130 SCV002031771 benign Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789131 SCV002031772 benign Autosomal recessive limb-girdle muscular dystrophy type 2K 2021-10-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000081476 SCV001917709 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000081476 SCV001956336 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000081476 SCV001973457 benign not specified no assertion criteria provided clinical testing

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