ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.623-17A>G

gnomAD frequency: 0.00905  dbSNP: rs191780003
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000418698 SCV000514645 benign not specified 2016-11-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV002061511 SCV002352698 benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002061511 SCV002796766 likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2021-10-08 criteria provided, single submitter clinical testing

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