ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.1320_1369+2del (rs1553676221)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Klinikum rechts der Isar RCV000995515 SCV001149722 pathogenic Alport syndrome, autosomal recessive 2019-06-07 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625569 SCV000746065 pathogenic Alport syndrome 3, autosomal dominant 2017-09-18 no assertion criteria provided clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000625569 SCV000863940 pathogenic Alport syndrome 3, autosomal dominant 2018-09-13 no assertion criteria provided clinical testing

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