ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)

gnomAD frequency: 0.56713  dbSNP: rs7216
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283231 SCV000401263 benign Sjögren-Larsson syndrome 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000283231 SCV001140327 benign Sjögren-Larsson syndrome 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000676620 SCV001727954 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000283231 SCV001761195 benign Sjögren-Larsson syndrome 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000676620 SCV001898372 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676620 SCV000802412 benign not provided 2016-02-19 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528358 SCV001739992 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001528358 SCV001960108 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV000283231 SCV002093190 benign Sjögren-Larsson syndrome 2019-11-18 no assertion criteria provided clinical testing

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