ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=)

gnomAD frequency: 0.00004  dbSNP: rs577303432
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663879 SCV001879638 uncertain significance not provided 2021-04-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004782772 SCV005395013 likely benign not specified 2024-09-10 criteria provided, single submitter clinical testing

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