ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5167+228T>G

gnomAD frequency: 0.00342  dbSNP: rs180916492
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576657 SCV001803887 likely benign not provided 2018-09-22 criteria provided, single submitter clinical testing
ITMI RCV000119857 SCV000083987 not provided not specified 2013-09-19 no assertion provided reference population

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