ClinVar Miner

Submissions for variant NM_020686.5(ABAT):c.55C>T (p.Arg19Cys) (rs77696190)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224364 SCV000281387 likely benign not provided 2016-05-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000532415 SCV000632417 benign Gamma-aminobutyric acid transaminase deficiency 2017-12-14 criteria provided, single submitter clinical testing

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