ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) (rs104886270)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gharavi Laboratory,Columbia University RCV000782215 SCV000920702 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV000021597 SCV001440211 pathogenic Alport syndrome 1, X-linked recessive 2019-01-01 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021597 SCV000042263 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000021597 SCV000746145 uncertain significance Alport syndrome 1, X-linked recessive 2017-09-28 no assertion criteria provided clinical testing

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