ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser) (rs773883586)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000941280 SCV001087163 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000714303 SCV000844993 uncertain significance Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only

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