ClinVar Miner

Submissions for variant NM_020686.6(ABAT):c.168+1G>A

dbSNP: rs1567300736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Elsea Laboratory, Baylor College of Medicine RCV000786413 SCV000920600 pathogenic Gamma-aminobutyric acid transaminase deficiency 2019-02-01 criteria provided, single submitter clinical testing
DECIPHERD-UDD, Universidad del Desarrollo RCV000786413 SCV004170982 pathogenic Gamma-aminobutyric acid transaminase deficiency 2023-07-01 criteria provided, single submitter research

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