ClinVar Miner

Submissions for variant NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His)

gnomAD frequency: 0.00012  dbSNP: rs372830543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806389 SCV000946384 likely benign Adams-Oliver syndrome 5 2024-11-01 criteria provided, single submitter clinical testing
ITMI RCV000121691 SCV000085889 not provided not specified 2013-09-19 no assertion provided reference population

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