ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4892-22G>T

gnomAD frequency: 0.59905  dbSNP: rs2074620
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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 RCV001615105 SCV001157450 benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001615105 SCV001841922 benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785754 SCV002026896 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785755 SCV002026897 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615105 SCV005315447 benign not provided criteria provided, single submitter not provided

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