ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3837+21T>A

gnomAD frequency: 0.56639  dbSNP: rs11670823
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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 RCV001683715 SCV001157448 benign not provided 2020-04-17 criteria provided, single submitter clinical testing
GeneDx RCV001683715 SCV001904312 benign not provided 2019-09-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785750 SCV002026901 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785751 SCV002026902 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683715 SCV005315453 benign not provided criteria provided, single submitter not provided

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