ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)

gnomAD frequency: 0.00062  dbSNP: rs200970855
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301411 SCV000338043 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing
Invitae RCV001082288 SCV000649704 likely benign Qualitative or quantitative defects of dysferlin 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000301411 SCV001820685 likely benign not provided 2020-11-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24838345, 26077850, 18853459, 25312915)
Revvity Omics, Revvity Omics RCV000301411 SCV003830888 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833344 SCV002079753 benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-01-23 no assertion criteria provided clinical testing

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