ClinVar Miner

Submissions for variant NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)

dbSNP: rs766147142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624205 SCV000741528 uncertain significance Inborn genetic diseases 2016-05-26 criteria provided, single submitter clinical testing
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas RCV003988851 SCV004805216 likely pathogenic Auditory neuropathy-optic atrophy syndrome 2023-03-01 no assertion criteria provided clinical testing

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