ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.743-1G>T (rs587777735)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000144234 SCV000189368 pathogenic Adams-Oliver syndrome 5 2014-09-04 no assertion criteria provided literature only
University of British Columbia RCV000144234 SCV000172277 likely pathogenic Adams-Oliver syndrome 5 2014-07-01 no assertion criteria provided research

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