ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2682+1G>T

dbSNP: rs1568792238
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735071 SCV000863264 pathogenic not provided 2018-09-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000735071 SCV004226703 likely pathogenic not provided 2022-07-26 criteria provided, single submitter clinical testing PM2, PVS1

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