ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)

gnomAD frequency: 0.10508  dbSNP: rs35769976
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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 RCV000243215 SCV000304254 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000009808 SCV000410983 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.
Athena Diagnostics RCV000243215 SCV000614272 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001519393 SCV001159334 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519393 SCV001728258 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001519393 SCV001864476 benign not provided 2021-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 18765654, 19528524, 21345538, 20981092)
Fulgent Genetics, Fulgent Genetics RCV002504773 SCV002811977 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-10-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519393 SCV005315459 benign not provided criteria provided, single submitter not provided
OMIM RCV000009808 SCV000030029 pathogenic Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2009-06-16 no assertion criteria provided literature only
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001519393 SCV001799554 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000243215 SCV001806816 benign not specified no assertion criteria provided clinical testing

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