ClinVar Miner

Submissions for variant NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)

gnomAD frequency: 0.01539  dbSNP: rs79577461
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391565 SCV000473937 benign Idiopathic basal ganglia calcification 1 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.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000391565 SCV000744956 benign Idiopathic basal ganglia calcification 1 2015-09-21 criteria provided, single submitter clinical testing
Invitae RCV001523704 SCV001733462 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001523704 SCV001816673 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003922634 SCV004746440 benign SLC20A2-related condition 2019-09-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000391565 SCV000745757 likely benign Idiopathic basal ganglia calcification 1 2015-10-20 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579610 SCV001807889 benign not specified no assertion criteria provided clinical testing

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