ClinVar Miner

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

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Total submissions: 7
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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.
Division of Genomic Diagnostics,The 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 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000224165 SCV000657199 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Mendelics RCV000990365 SCV001141317 benign Bethlem myopathy 1 2019-05-28 criteria provided, single submitter clinical testing

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