ClinVar Miner

Submissions for variant NM_000092.4(COL4A4):c.4129C>T (p.Arg1377Ter) (rs121912861)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000018950 SCV000797146 pathogenic Alport syndrome, autosomal recessive 2018-01-15 criteria provided, single submitter clinical testing
OMIM RCV000018950 SCV000039237 pathogenic Alport syndrome, autosomal recessive 1998-11-01 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000681673 SCV000809119 pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000787008 SCV000925916 pathogenic Alport syndrome 3, autosomal dominant 2019-01-03 no assertion criteria provided clinical testing

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