ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.588+19dup

dbSNP: rs111710378
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000079818 SCV000111701 benign not specified 2012-09-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000079818 SCV000308228 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000265411 SCV000436488 benign Collagen 6-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001573317 SCV001892449 benign not provided 2016-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055140 SCV002478891 benign Bethlem myopathy 1A 2025-02-03 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573317 SCV001799010 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000079818 SCV001918267 benign not specified no assertion criteria provided clinical testing

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