ClinVar Miner

Submissions for variant NM_005422.4(TECTA):c.2604G>T (p.Thr868=)

gnomAD frequency: 0.00073  dbSNP: rs139509847
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000217617 SCV000270905 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing p.Thr868Thr in Exon 09 of TECTA: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (32/10406) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstit ute.org/; dbSNP rs139509847).
Eurofins Ntd Llc (ga) RCV000217617 SCV000860277 likely benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000901954 SCV001046353 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000901954 SCV001783426 uncertain significance not provided 2020-09-10 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge

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