ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)

gnomAD frequency: 0.00006  dbSNP: rs144116735
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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 RCV000648022 SCV000769832 likely benign Qualitative or quantitative defects of dysferlin 2024-06-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311193 SCV001501282 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001311193 SCV003829626 uncertain significance not provided 2020-10-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276870 SCV001463485 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-24 no assertion criteria provided clinical testing

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