ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.871G>A (p.Glu291Lys)

gnomAD frequency: 0.00001  dbSNP: rs1017020344
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333613 SCV001526254 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2018-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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