ClinVar Miner

Submissions for variant NM_000091.4(COL4A3):c.765G>A (p.Thr255=) (rs869025328)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000256383 SCV000323165 uncertain significance Alport syndrome, autosomal recessive no assertion criteria provided clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000735673 SCV000863816 pathogenic Alport syndrome 3, autosomal dominant 2018-02-19 no assertion criteria provided clinical testing
Counsyl RCV000256383 SCV000798581 uncertain significance Alport syndrome, autosomal recessive 2018-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764364 SCV000895398 uncertain significance Alport syndrome 3, autosomal dominant; Alport syndrome, autosomal recessive; Benign familial hematuria 2018-10-31 criteria provided, single submitter clinical testing

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