ClinVar Miner

Submissions for variant NM_144696.6(AXDND1):c.3032-1907G>A (rs74315348)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005700 SCV000220295 likely pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2014-05-05 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000005700 SCV000893929 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000005700 SCV000025882 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2000-04-01 no assertion criteria provided literature only
Gharavi Laboratory,Columbia University RCV000681927 SCV000809411 pathogenic not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare RCV000005700 SCV000863895 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2018-06-04 no assertion criteria provided clinical testing

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