ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3303C>T (p.Tyr1101=)

gnomAD frequency: 0.00009  dbSNP: rs201477760
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000177463 SCV000309669 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177463 SCV000337803 likely benign not specified 2015-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000539475 SCV000649655 benign Qualitative or quantitative defects of dysferlin 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000539475 SCV001300246 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.

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