ClinVar Miner

Submissions for variant NM_133642.5(LARGE1):c.408+8G>A

gnomAD frequency: 0.00103  dbSNP: rs141818070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724239 SCV000230240 uncertain significance not provided 2014-10-23 criteria provided, single submitter clinical testing
GeneDx RCV000178220 SCV000526871 likely benign not specified 2018-01-03 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.
Genetic Services Laboratory, University of Chicago RCV000178220 SCV000595562 uncertain significance not specified 2016-01-05 criteria provided, single submitter clinical testing
Invitae RCV001081988 SCV000761731 benign Muscular dystrophy-dystroglycanopathy type B6 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000178220 SCV001879946 likely benign not specified 2021-04-23 criteria provided, single submitter clinical testing

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