ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.417G>A (p.Glu139=)

gnomAD frequency: 0.00005  dbSNP: rs752316567
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001278840 SCV001698097 likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278840 SCV001465883 uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2020-04-16 no assertion criteria provided clinical testing

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