ClinVar Miner

Submissions for variant NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter)

dbSNP: rs2513609886
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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 RCV003140582 SCV003807477 pathogenic Cystinuria 2022-12-22 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderated, PM2 moderated

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