ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) (rs140210015)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178599 SCV000230714 likely benign not specified 2015-01-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382837 SCV000382343 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000288435 SCV000382344 likely benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352588 SCV000382345 likely benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000178599 SCV000308122 likely benign not specified criteria provided, single submitter clinical testing

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