ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met)

gnomAD frequency: 0.00004  dbSNP: rs200160665
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518452 SCV000614236 likely benign not specified 2016-05-26 criteria provided, single submitter clinical testing
Invitae RCV002527498 SCV003257054 benign not provided 2022-04-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002527498 SCV003816027 uncertain significance not provided 2019-05-02 criteria provided, single submitter clinical testing

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