ClinVar Miner

Submissions for variant NM_153365.3(TAPT1):c.1156C>T (p.Arg386Ter)

dbSNP: rs1265664823
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844402 SCV005016553 likely pathogenic Complex lethal osteochondrodysplasia 2024-03-14 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844402 SCV001870525 pathogenic Complex lethal osteochondrodysplasia 2021-04-29 no assertion criteria provided research

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