ClinVar Miner

Submissions for variant NM_004369.4(COL6A3):c.7162+48G>A

gnomAD frequency: 0.00316  dbSNP: rs112563876
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080985 SCV000112892 benign not specified 2012-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001588906 SCV001824731 likely benign not provided 2018-10-24 criteria provided, single submitter clinical testing

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