ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2383G>A (p.Gly795Ser)

gnomAD frequency: 0.00001  dbSNP: rs987799112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734733 SCV000862897 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000734733 SCV002501737 uncertain significance not provided 2021-07-19 criteria provided, single submitter clinical testing

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