ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)

gnomAD frequency: 0.00012  dbSNP: rs367901920
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001244179 SCV001417382 likely benign Qualitative or quantitative defects of dysferlin 2024-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001760277 SCV001998282 uncertain significance not provided 2025-01-26 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD)
Revvity Omics, Revvity RCV001760277 SCV003830895 uncertain significance not provided 2019-04-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829922 SCV002079838 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-07-09 no assertion criteria provided clinical testing

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