ClinVar Miner

Submissions for variant NM_033380.3(COL4A5):c.2509+2T>G (rs1569497030)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine Center, Medical University of Sofia RCV000782361 SCV000920882 pathogenic Alport syndrome 1, X-linked recessive 2019-06-12 criteria provided, single submitter clinical testing A family with 5 affected individuals across 3 generations. Four individuals tested and found to carry variant. Early onset even in female - 2 years of age.

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