ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.1549G>A (p.Gly517Ser) (rs76547444)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000405745 SCV000436370 likely benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000443004 SCV000511067 likely benign not provided 2016-12-30 criteria provided, single submitter clinical testing Converted during submission to Likely benign.

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