ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) (rs145172612)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176542 SCV000228217 uncertain significance not provided 2015-01-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000264390 SCV000382478 uncertain significance Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323259 SCV000382479 uncertain significance Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363915 SCV000382480 uncertain significance Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763877 SCV000894812 uncertain significance Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Brain small vessel disease 1 with or without ocular anomalies; SCHIZENCEPHALY; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000176542 SCV001106714 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing

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