ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) (rs146384562)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000245703 SCV000230654 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000245703 SCV000309693 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001085998 SCV000649709 benign Qualitative or quantitative defects of dysferlin 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000245703 SCV000729544 benign not specified 2017-02-17 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.
Athena Diagnostics Inc RCV000711564 SCV000841943 likely benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085998 SCV001298478 uncertain significance Qualitative or quantitative defects of dysferlin 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.
Nilou-Genome Lab RCV001449590 SCV001652742 likely benign Miyoshi muscular dystrophy 1 2021-05-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274849 SCV001459365 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-12 no assertion criteria provided clinical testing

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