ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.381G>A (p.Thr127=)

gnomAD frequency: 0.00005  dbSNP: rs543205273
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243994 SCV001417186 likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2024-01-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243994 SCV001465882 uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2020-04-16 no assertion criteria provided clinical testing

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