ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) (rs145690047)

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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 RCV000080289 SCV000112184 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273478 SCV000431822 uncertain significance Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330853 SCV000431823 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000080289 SCV000613211 benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Invitae RCV000539088 SCV000649692 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
GeneDx RCV000080289 SCV000721223 likely benign not specified 2017-07-19 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.

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