ClinVar Miner

Submissions for variant NM_000495.5(COL4A5):c.4793C>T (p.Ser1598Phe) (rs1569509257)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research and Development, ARUP Laboratories RCV000714432 SCV000845128 pathogenic Alport syndrome 1, X-linked recessive 2018-04-13 no assertion criteria provided literature only
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000714432 SCV000863869 likely pathogenic Alport syndrome 1, X-linked recessive 2018-05-17 no assertion criteria provided clinical testing

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