ClinVar Miner

Submissions for variant NM_000092.5(COL4A4):c.594+1G>A (rs1553690565)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000505603 SCV000793901 likely pathogenic Alport syndrome, autosomal recessive 2017-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV001535988 SCV001752659 likely pathogenic Alport syndrome, autosomal recessive; Benign familial hematuria 2021-06-30 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000505603 SCV000599862 pathogenic Alport syndrome, autosomal recessive 2017-04-20 no assertion criteria provided clinical testing

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