ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2192C>T (p.Thr731Met)

gnomAD frequency: 0.00002  dbSNP: rs570860273
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563902 SCV001786959 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563903 SCV001786960 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563944 SCV001787009 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488382 SCV002788043 uncertain significance Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset 2022-03-08 criteria provided, single submitter clinical testing
Invitae RCV002573185 SCV003519278 likely benign Qualitative or quantitative defects of dysferlin 2024-01-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003146217 SCV003829572 uncertain significance not provided 2020-12-23 criteria provided, single submitter clinical testing

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