ClinVar Miner

Submissions for variant NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His)

gnomAD frequency: 0.00006  dbSNP: rs142096113
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Total submissions: 2
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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 RCV002252607 SCV002523949 uncertain significance See cases 2021-03-29 criteria provided, single submitter clinical testing ACMG classification criteria: PM2
OMIM RCV003492744 SCV004242170 pathogenic Mitochondrial complex 1 deficiency, nuclear type 31 2024-01-26 no assertion criteria provided literature only

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