ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile) (rs142050639)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000296595 SCV000373642 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349342 SCV000373643 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416264 SCV000493687 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000416264 SCV000802793 uncertain significance not provided 2016-02-26 no assertion criteria provided clinical testing

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