ClinVar Miner

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

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250849 SCV000318404 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: 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 likely benign Isolated Nonsyndromic Congenital Heart Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291273 SCV000432930 likely benign Arteriohepatic dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000461736 SCV000557599 benign Alagille syndrome 1 2017-08-12 criteria provided, single submitter clinical testing
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 RCV000035338 SCV000303038 benign not specified criteria provided, single submitter clinical testing

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