ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)

gnomAD frequency: 0.00009  dbSNP: rs149386446
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598052 SCV000703323 uncertain significance not provided 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000648023 SCV000769833 likely benign Qualitative or quantitative defects of dysferlin 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000648023 SCV001302859 uncertain significance Qualitative or quantitative defects of dysferlin 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001526744 SCV001737214 uncertain significance Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000598052 SCV003829580 uncertain significance not provided 2023-03-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274446 SCV001458647 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-09-16 no assertion criteria provided clinical testing

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