ClinVar Miner

Submissions for variant NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) (rs115784602)

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Total submissions: 5
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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 RCV000438651 SCV000511138 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000363885 SCV000336545 likely benign not specified 2015-10-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000363885 SCV000593092 uncertain significance not specified 2017-06-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308455 SCV000461824 uncertain significance Succinate-semialdehyde dehydrogenase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000308455 SCV000632015 benign Succinate-semialdehyde dehydrogenase deficiency 2017-12-12 criteria provided, single submitter clinical testing

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