ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2435-19C>T

gnomAD frequency: 0.03003  dbSNP: rs115181427
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079794 SCV000111677 benign not specified 2012-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079794 SCV000308197 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000079794 SCV000519252 benign not specified 2016-03-28 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055139 SCV002450625 benign Bethlem myopathy 1A 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001795093 SCV005279440 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000079794 SCV001918518 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000079794 SCV001955652 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001795093 SCV002035387 likely benign not provided no assertion criteria provided clinical testing

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