ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1449+13C>T (rs4852801)

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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 RCV000080231 SCV000112126 benign not specified 2013-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000080231 SCV000512914 benign not specified 2016-01-05 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.
Illumina Clinical Services Laboratory,Illumina RCV000265947 SCV000431716 benign Miyoshi myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304770 SCV000431717 benign Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000080231 SCV000269046 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.1449+13C>T in intron 15 of DYSF: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus se quence. It has been identified in 46.8% (2064/4406) of African American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs4852801).
PreventionGenetics RCV000080231 SCV000309642 benign not specified criteria provided, single submitter clinical testing

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