ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.1129G>A (p.Gly377Arg)

dbSNP: rs1603286154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029966 SCV001192765 likely pathogenic X-linked Alport syndrome 2019-08-07 no assertion criteria provided clinical testing

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