ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=)

gnomAD frequency: 0.76937  dbSNP: rs1043997
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246643 SCV000304252 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304759 SCV000410987 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2018-01-12 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 RCV001514209 SCV001157011 benign not provided 2021-01-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001514209 SCV001721999 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001514209 SCV001830146 benign not provided 2021-04-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000304759 SCV002026907 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001785530 SCV002026908 benign Lateral meningocele syndrome 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001514209 SCV005308374 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000246643 SCV001741035 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000246643 SCV001808099 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000246643 SCV001969693 benign not specified no assertion criteria provided clinical testing

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