ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.958C>G (p.Pro320Ala)

gnomAD frequency: 0.00001  dbSNP: rs781397040
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, CHU Paris - Hôpital Necker-Enfants Malades RCV001002678 SCV001160695 pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 criteria provided, single submitter clinical testing

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