ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) (rs150724610)

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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 RCV000080227 SCV000342092 benign not specified 2016-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000080227 SCV000512911 benign not specified 2016-06-16 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513692 SCV000610420 benign not provided 2017-05-08 criteria provided, single submitter clinical testing
Invitae RCV000554195 SCV000649596 benign Dysferlinopathy 2018-01-10 criteria provided, single submitter clinical testing
Counsyl RCV000670929 SCV000795850 likely benign Limb-girdle muscular dystrophy, type 2B 2017-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000513692 SCV000841923 benign not provided 2017-09-14 criteria provided, single submitter clinical testing

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