ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.4567C>A (p.Pro1523Thr) (rs201220208)

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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 RCV000782219 SCV000920706 uncertain significance not provided 2018-09-16 criteria provided, single submitter research
Invitae RCV000782219 SCV001035758 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021628 SCV000042294 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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