ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.765= (p.Tyr255=) (rs1131695)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150845 SCV000198393 benign not specified 2016-03-30 criteria provided, single submitter clinical testing p.Tyr255Tyr in exon 6 of JAG1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 47% (7735/16502) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP 1131695).

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