ClinVar Miner

Submissions for variant NM_021939.4(FKBP10):c.179A>C (p.Gln60Pro)

dbSNP: rs2144041758
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002244230 SCV002512622 likely pathogenic Bruck syndrome 1 2022-01-28 criteria provided, single submitter clinical testing ACMG classification criteria: PS4 moderate, PM2 moderate, PM3 moderate, PP3 supporting

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