ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) (rs185042766)

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Total submissions: 3
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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 RCV000514741 SCV000609985 benign not provided 2017-02-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363902 SCV000461808 likely benign Succinate-semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000363902 SCV000631985 likely benign Succinate-semialdehyde dehydrogenase deficiency 2017-12-22 criteria provided, single submitter clinical testing

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