ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.924C>T (p.Asn308=) (rs45575136)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035338 SCV000058986 benign not specified 2016-02-10 criteria provided, single submitter clinical testing p.Asn308Asn in exon 7 of JAG1:This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 11% (1274/11536) of Latino chromosomes, including 73 homozygotes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs45575136).
PreventionGenetics,PreventionGenetics RCV000035338 SCV000303038 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000250849 SCV000318404 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Clinical Services Laboratory,Illumina RCV000383370 SCV000432929 benign Isolated Nonsyndromic Congenital Heart Disease 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.
Invitae RCV000461736 SCV000557599 benign Alagille syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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