ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.99C>T (p.Ser33=)

gnomAD frequency: 0.00006  dbSNP: rs377353667
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000874489 SCV001016669 likely benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000874489 SCV001306448 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001145755 SCV001306449 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
PreventionGenetics, part of Exact Sciences RCV003955721 SCV004769183 likely benign LARGE1-related disorder 2019-07-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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