ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.540+14CA[10]

dbSNP: rs35745596
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522235 SCV001731736 benign Gamma-aminobutyric acid transaminase deficiency 2025-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001522235 SCV002806303 likely benign Gamma-aminobutyric acid transaminase deficiency 2021-10-08 criteria provided, single submitter clinical testing

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