ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.309C>T (p.Ser103=)

gnomAD frequency: 0.01920  dbSNP: rs59349720
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000081180 SCV000113088 benign not specified 2012-11-15 criteria provided, single submitter clinical testing
GeneDx RCV000081180 SCV000196852 benign not specified 2014-06-25 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 RCV000081180 SCV000310642 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000544713 SCV000438174 likely benign Muscular dystrophy-dystroglycanopathy type B6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000320123 SCV000438175 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000544713 SCV000638998 benign Muscular dystrophy-dystroglycanopathy type B6 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000081180 SCV000193514 likely benign not specified no assertion criteria provided clinical testing

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