ClinVar Miner

Submissions for variant NM_016035.5(COQ4):c.305G>A (p.Arg102His)

gnomAD frequency: 0.00001  dbSNP: rs929713295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644928 SCV001519123 pathogenic Spastic ataxia 2021-01-04 criteria provided, single submitter research
OMIM RCV001374711 SCV001571640 pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 2024-05-07 no assertion criteria provided literature only
OMIM RCV003482334 SCV004231725 pathogenic Spastic ataxia 10, autosomal recessive 2024-05-07 no assertion criteria provided literature only

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