ClinVar Miner

Submissions for variant NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)

gnomAD frequency: 0.00299  dbSNP: rs141246107
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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 RCV000224719 SCV000281403 likely benign not provided 2015-09-28 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238619 SCV000296923 uncertain significance not specified 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV001084238 SCV000759781 benign Non-ketotic hyperglycinemia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001084238 SCV001306995 likely benign Non-ketotic hyperglycinemia 2018-03-06 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Natera, Inc. RCV001084238 SCV001456770 benign Non-ketotic hyperglycinemia 2019-11-11 no assertion criteria provided clinical testing

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