ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.1466-6C>T (rs183563055)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176471 SCV000228133 uncertain significance not provided 2014-12-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269266 SCV000382481 likely benign Brain small vessel disease with hemorrhage 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329042 SCV000382482 likely benign Porencephalic cyst 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383787 SCV000382483 likely benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 2016-06-14 criteria provided, single submitter clinical testing

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