ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) (rs121908954)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000153183 SCV000613205 likely benign not specified 2016-11-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658868 SCV000780667 likely benign not provided 2018-02-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153183 SCV000332041 benign not specified 2015-07-09 criteria provided, single submitter clinical testing
GeneDx RCV000153183 SCV000512918 likely benign not specified 2018-03-06 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.
GenomeConnect, ClinGen RCV000509353 SCV000606886 not provided Dysferlinopathy no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000509353 SCV000649673 benign Dysferlinopathy 2018-01-04 criteria provided, single submitter clinical testing
OMIM RCV000007049 SCV000027245 pathogenic Miyoshi muscular dystrophy 1 1998-09-01 no assertion criteria provided literature only
OMIM RCV000681611 SCV000809051 pathogenic Limb-girdle muscular dystrophy, type 2B 1998-09-01 no assertion criteria provided literature only
PreventionGenetics RCV000153183 SCV000309678 likely benign not specified criteria provided, single submitter clinical testing

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