ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val)

gnomAD frequency: 0.00043  dbSNP: rs150037063
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV001644712 SCV001143387 benign not specified 2020-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000625619 SCV001287059 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV000991711 SCV001370996 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing NOTCH3: PP2, BS1
Invitae RCV000991711 SCV002405799 benign not provided 2023-12-07 criteria provided, single submitter clinical testing
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000625619 SCV000746120 uncertain significance Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2017-09-18 no assertion criteria provided clinical testing

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