ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) (rs138899581)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723507 SCV000082835 uncertain significance not provided 2017-01-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360603 SCV000436484 likely benign Collagen VI-related myopathy 2017-04-28 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.
Genetic Services Laboratory,University of Chicago RCV000050243 SCV000594197 uncertain significance not specified 2016-01-13 criteria provided, single submitter clinical testing
Invitae RCV001083967 SCV000657064 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000360603 SCV000840282 not provided Collagen VI-related myopathy 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.

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