ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)

gnomAD frequency: 0.00182  dbSNP: rs145144233
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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 RCV000625145 SCV000373730 uncertain significance Autosomal recessive osteopetrosis 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, 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.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625145 SCV000743872 likely benign Autosomal recessive osteopetrosis 1 2017-11-20 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625145 SCV000745299 likely benign Autosomal recessive osteopetrosis 1 2017-10-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658610 SCV000780388 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing TCIRG1: BP4, BP7
Eurofins Ntd Llc (ga) RCV000658610 SCV000857757 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
Invitae RCV000658610 SCV001035723 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000625145 SCV001456353 likely benign Autosomal recessive osteopetrosis 1 2020-09-16 no assertion criteria provided clinical testing

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