ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)

dbSNP: rs34387018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335708 SCV000344614 uncertain significance not provided 2016-08-18 criteria provided, single submitter clinical testing
Invitae RCV001084714 SCV000649607 benign Qualitative or quantitative defects of dysferlin 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000335708 SCV000982085 likely benign not provided 2018-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Natera, Inc. RCV001828273 SCV002079803 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2B 2020-02-14 no assertion criteria provided clinical testing

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