ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2411-11C>A

gnomAD frequency: 0.00043  dbSNP: rs201130717
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002068771 SCV001158575 likely benign not provided 2023-10-18 criteria provided, single submitter clinical testing
Invitae RCV002068771 SCV002323088 benign not provided 2023-11-03 criteria provided, single submitter clinical testing

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