ClinVar Miner

Submissions for variant NM_000360.4(TH):c.977+8C>G

gnomAD frequency: 0.27597  dbSNP: rs12419447
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250457 SCV000317141 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000250457 SCV000341667 benign not specified 2016-05-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000278788 SCV000369915 benign Autosomal recessive DOPA responsive dystonia 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.
Athena Diagnostics RCV000710269 SCV000677518 benign not provided 2017-04-14 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000278788 SCV000745017 benign Autosomal recessive DOPA responsive dystonia 2015-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000278788 SCV001726102 benign Autosomal recessive DOPA responsive dystonia 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000278788 SCV001754947 benign Autosomal recessive DOPA responsive dystonia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV000710269 SCV001884234 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000250457 SCV005091662 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 42% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 39. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV000710269 SCV005321294 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000278788 SCV000745783 benign Autosomal recessive DOPA responsive dystonia 2015-02-07 no assertion criteria provided clinical testing
Natera, Inc. RCV000278788 SCV001463811 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000250457 SCV001951340 benign not specified no assertion criteria provided clinical testing

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