ClinVar Miner

Submissions for variant NM_030582.4(COL18A1):c.781C>T (p.Arg261Trp) (rs76658745)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224600 SCV000281071 likely benign not provided 2015-09-25 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000337693 SCV000436349 likely benign Knobloch syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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