ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)

gnomAD frequency: 0.00001  dbSNP: rs104894431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000006362 SCV004201685 likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2023-07-22 criteria provided, single submitter clinical testing
OMIM RCV000006362 SCV000026544 pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2001-09-11 no assertion criteria provided literature only
GeneReviews RCV000006362 SCV000054635 not provided Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome no assertion provided literature only

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