ClinVar Miner

Submissions for variant NM_001136193.2(FASTKD2):c.*3673G>A

dbSNP: rs956286568
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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 RCV002243585 SCV002512313 uncertain significance Combined oxidative phosphorylation deficiency 44 2021-11-27 criteria provided, single submitter clinical testing ACMG classification criteria: PM2 moderate

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