ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.1285T>C (p.Cys429Arg) (rs587777736)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of British Columbia RCV000144235 SCV000172279 likely pathogenic Adams-Oliver syndrome 5 2014-07-01 no assertion criteria provided research
OMIM RCV000144235 SCV000189369 pathogenic Adams-Oliver syndrome 5 2014-09-04 no assertion criteria provided literature only

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