ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.30G>A (p.Thr10=)

gnomAD frequency: 0.00362  dbSNP: rs28909989
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000283065 SCV000416554 uncertain significance Deficiency of iodide peroxidase 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago RCV000502489 SCV000597528 likely benign not specified 2016-11-07 criteria provided, single submitter clinical testing
Invitae RCV000970598 SCV001118187 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970598 SCV004138467 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing TPO: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV000502489 SCV001919589 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000502489 SCV001970921 benign not specified no assertion criteria provided clinical testing

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