ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1886C>T (rs139361545)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000727017 SCV000621152 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000727017 SCV000704972 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
Invitae RCV000727017 SCV001031662 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV001171326 SCV001328273 uncertain significance Chronic kidney disease 2020-05-28 criteria provided, single submitter research PP3
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001195565 SCV001365958 likely benign not specified 2020-01-14 criteria provided, single submitter clinical testing The p.Thr629Met variant in COL4A3 is classified as likely benign because it has been identified in 0.3% (77/24158) of African chromosomes by gnomAD ( Computational prediction tools and conservation analysis suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Natera, Inc. RCV001274582 SCV001458841 uncertain significance Alport syndrome 2020-01-24 no assertion criteria provided clinical testing

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