ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.414G>T (p.Leu138=)

gnomAD frequency: 0.00001  dbSNP: rs148461900
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318618 SCV000373614 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353349 SCV000373615 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310971 SCV001500975 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Invitae RCV001310971 SCV002392374 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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