ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5913+28T>G

gnomAD frequency: 0.90682  dbSNP: rs4809029
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001720273 SCV001157455 benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001720273 SCV001947221 benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785762 SCV002026883 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785763 SCV002026884 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001720273 SCV005315429 benign not provided criteria provided, single submitter not provided

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