ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) (rs141703710)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079892 SCV000111775 benign not specified 2013-12-06 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224165 SCV000280755 likely benign not provided 2015-02-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000079892 SCV000297362 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079892 SCV000308310 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354637 SCV000436624 likely benign Collagen VI-related myopathy 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000990365 SCV000657199 benign Bethlem myopathy 1 2020-12-03 criteria provided, single submitter clinical testing
Mendelics RCV000990365 SCV001141317 benign Bethlem myopathy 1 2019-05-28 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000079892 SCV001474858 benign not specified 2020-03-31 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000224165 SCV001798291 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000079892 SCV001925664 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000224165 SCV001931376 likely benign not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000224165 SCV001957825 likely benign not provided no assertion criteria provided clinical testing

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