ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=)

gnomAD frequency: 0.90693  dbSNP: rs1044006
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000249034 SCV000304261 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000315021 SCV000410964 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001514208 SCV001158970 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Invitae RCV001514208 SCV001721998 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001514208 SCV001753973 benign not provided 2019-03-14 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29544907)
Genome-Nilou Lab RCV000315021 SCV002026899 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785532 SCV002026900 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249034 SCV001741789 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000249034 SCV001807120 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000249034 SCV001976023 benign not specified no assertion criteria provided clinical testing

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