ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.340+14A>G

gnomAD frequency: 0.00022  dbSNP: rs202136001
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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 RCV001810756 SCV002048080 likely benign not provided 2024-11-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810756 SCV002344342 benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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