ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5815+36G>A

gnomAD frequency: 0.90515  dbSNP: rs2074618
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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 RCV001664604 SCV001157453 benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001664604 SCV001881438 benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785760 SCV002026888 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785761 SCV002026889 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001664604 SCV005315434 benign not provided criteria provided, single submitter not provided

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