ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys)

gnomAD frequency: 0.00014  dbSNP: rs200227737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696920 SCV000590776 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000498912 SCV000859520 likely benign not specified 2018-02-06 criteria provided, single submitter clinical testing
Invitae RCV001851388 SCV002209897 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-11 criteria provided, single submitter clinical testing

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