ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.3949+10C>T (rs188122235)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000298363 SCV000382367 likely benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341673 SCV000382368 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407790 SCV000382369 likely benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514401 SCV000609790 likely benign not provided 2017-06-12 criteria provided, single submitter clinical testing
Invitae RCV000514401 SCV001098095 benign not provided 2018-12-18 criteria provided, single submitter clinical testing

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