ClinVar Miner

Submissions for variant NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)

gnomAD frequency: 0.00001  dbSNP: rs1391374865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001795886 SCV003836109 pathogenic Cholestasis, progressive familial intrahepatic, 8 2022-01-15 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001795886 SCV004801159 pathogenic Cholestasis, progressive familial intrahepatic, 8 2024-03-14 criteria provided, single submitter research
OMIM RCV001795886 SCV002037211 pathogenic Cholestasis, progressive familial intrahepatic, 8 2021-12-16 no assertion criteria provided literature only

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