ClinVar Miner

Submissions for variant NM_006567.5(FARS2):c.1113G>T (p.Leu371Phe)

dbSNP: rs1204079767
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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 RCV001250395 SCV001424746 pathogenic Combined oxidative phosphorylation defect type 14 2019-12-12 no assertion criteria provided clinical testing

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