ClinVar Miner

Submissions for variant NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)

gnomAD frequency: 0.00005  dbSNP: rs553432772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS RCV000758010 SCV000882532 uncertain significance Abnormal facial shape; Intellectual disability criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000931063 SCV001076726 likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2024-03-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000931063 SCV001454142 uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 2020-04-16 no assertion criteria provided clinical testing

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