ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.2748C>A (p.His916Gln)

dbSNP: rs372206114
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000286670 SCV000343133 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000286670 SCV002035390 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000286670 SCV002037635 likely benign not provided no assertion criteria provided clinical testing

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