ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5618G>A (p.Arg1873His)

gnomAD frequency: 0.00002  dbSNP: rs780169747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623519 SCV000742171 uncertain significance Inborn genetic diseases 2017-01-27 criteria provided, single submitter clinical testing
Invitae RCV002531898 SCV003280602 likely benign not provided 2022-10-27 criteria provided, single submitter clinical testing

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