ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.1927G>A (p.Gly643Ser) (rs778034451)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000681803 SCV000809272 likely pathogenic not provided 2018-09-16 no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000348330 SCV000428168 uncertain significance Alport syndrome 2016-06-14 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761268 SCV000891226 likely pathogenic Alport syndrome, autosomal recessive 2018-01-23 criteria provided, single submitter clinical testing

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