ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) (rs185596534)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000711563 SCV000112190 uncertain significance not provided 2018-04-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000406762 SCV000431836 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000311686 SCV000431837 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing The c.4742G>A (p.Arg1581His) variant as identified in a compound heterozygous state with a second missense variant in one female Korean patient with limb-girdle muscular dystrophy (Shin et al. 2015). Control data are unavailable for this variant, which is reported at a frequency of 0.00358 in the East Asian population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Arg1581His variant is classified as a variant of unknown significance but suspicious for pathogenicity for the recessive form of limb-girdle muscular dystrophy.
GeneDx RCV000080295 SCV000564953 likely benign not specified 2017-10-05 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.
Invitae RCV000711563 SCV000769852 likely benign not provided 2019-02-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711563 SCV000841942 uncertain significance not provided 2017-10-20 criteria provided, single submitter clinical testing

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