ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.436C>A (p.Pro146Thr)

gnomAD frequency: 0.00001  dbSNP: rs764933317
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001029945 SCV002780834 uncertain significance X-linked Alport syndrome 2021-10-16 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029945 SCV001192741 uncertain significance X-linked Alport syndrome 2019-11-25 no assertion criteria provided clinical testing

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