ClinVar Miner

Submissions for variant NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)

gnomAD frequency: 0.00456  dbSNP: rs116401889
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000381374 SCV000337636 benign not specified 2015-11-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000342244 SCV000473933 benign Idiopathic basal ganglia calcification 1 2018-01-12 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 RCV000342244 SCV000744955 likely benign Idiopathic basal ganglia calcification 1 2017-06-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000861358 SCV001001653 benign not provided 2025-01-24 criteria provided, single submitter clinical testing
GeneDx RCV000861358 SCV001864053 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000861358 SCV005223479 likely benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000342244 SCV000745756 likely benign Idiopathic basal ganglia calcification 1 2016-04-17 no assertion criteria provided clinical testing

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