ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.861C>T (p.Tyr287=)

gnomAD frequency: 0.00010  dbSNP: rs148422923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000969379 SCV001116894 likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2024-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000969379 SCV001454143 uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2020-01-24 no assertion criteria provided clinical testing

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