ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)

gnomAD frequency: 0.00003  dbSNP: rs749488054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807551 SCV000947611 likely benign Qualitative or quantitative defects of dysferlin 2024-03-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145159 SCV003830909 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825603 SCV002079839 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-03-17 no assertion criteria provided clinical testing

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