ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) (rs116426399)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000291125 SCV000343365 benign not specified 2016-07-01 criteria provided, single submitter clinical testing
Invitae RCV001085337 SCV000649674 likely benign Qualitative or quantitative defects of dysferlin 2020-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000526675 SCV000714642 likely benign not provided 2019-07-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000526675 SCV001143820 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001085337 SCV001297890 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000526675 SCV001501280 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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