ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.691C>G (p.Leu231Val)

dbSNP: rs199422226
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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 RCV002251906 SCV002523326 uncertain significance See cases 2019-10-31 criteria provided, single submitter clinical testing ACMG classification criteria: PS4, PM2, PP3
OMIM RCV000015301 SCV000035560 pathogenic Mitochondrial complex 1 deficiency, nuclear type 5 2005-04-01 no assertion criteria provided literature only

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