ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) (rs199955501)

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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 RCV000726161 SCV000342517 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356789 SCV000431698 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264345 SCV000431699 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000402278 SCV000525113 likely benign not specified 2016-03-18 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.
Counsyl RCV000665200 SCV000789275 uncertain significance Limb-girdle muscular dystrophy, type 2B 2017-01-20 criteria provided, single submitter clinical testing
Invitae RCV000726161 SCV001016908 likely benign not provided 2019-02-23 criteria provided, single submitter clinical testing

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