ClinVar Miner

Submissions for variant NM_000396.4(CTSK):c.5G>A (p.Trp2Ter)

dbSNP: rs1654102585
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001261623 SCV001438910 pathogenic Pyknodysostosis criteria provided, single submitter clinical testing

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