ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.2969-1G>C

dbSNP: rs1553639043
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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 RCV002483754 SCV002777418 likely pathogenic Autosomal recessive Alport syndrome; Benign familial hematuria 2022-01-14 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625686 SCV000746190 pathogenic Autosomal dominant Alport syndrome 2017-11-28 no assertion criteria provided clinical testing

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