ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.4603_4604del (p.Gln1535fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171499 SCV001305364 pathogenic Alport syndrome, autosomal recessive 2020-05-27 criteria provided, single submitter research
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171341 SCV001328288 pathogenic Chronic kidney disease 2020-05-28 criteria provided, single submitter research PVS1, PM2, PP3

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