ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1002+37A>G

gnomAD frequency: 0.05111  dbSNP: rs11702174
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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) RCV000079730 SCV000111613 benign not specified 2012-09-07 criteria provided, single submitter clinical testing
GeneDx RCV001571579 SCV001796083 likely benign not provided 2019-08-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001571579 SCV005207620 likely benign not provided criteria provided, single submitter not provided

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