ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5158C>G (p.Pro1720Ala)

gnomAD frequency: 0.00007  dbSNP: rs753176482
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563907 SCV001786965 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563908 SCV001786966 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563909 SCV001786967 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV002569021 SCV003470272 benign Qualitative or quantitative defects of dysferlin 2023-11-12 criteria provided, single submitter clinical testing

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