ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) (rs145143725)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000311115 SCV000339896 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV000648047 SCV000769857 benign Qualitative or quantitative defects of dysferlin 2020-12-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000648047 SCV001301314 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.
Athena Diagnostics Inc RCV000311115 SCV001475092 benign not specified 2020-06-05 criteria provided, single submitter clinical testing

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