ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.3013_3038del (p.Pro1005fs)

dbSNP: rs1574803208
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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 RCV001029886 SCV001192677 pathogenic Autosomal dominant Alport syndrome 2019-03-14 no assertion criteria provided clinical testing

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