ClinVar Miner

Submissions for variant NM_001082538.3(TCTN1):c.699_701TAA[1] (p.Asn235del) (rs797046038)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193784 SCV000249138 uncertain significance not specified 2014-10-16 criteria provided, single submitter clinical testing
Invitae RCV000726711 SCV000562433 likely benign not provided 2018-07-31 criteria provided, single submitter clinical testing
GeneDx RCV000726711 SCV000577323 uncertain significance not provided 2018-09-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the TCTN1 gene. The c.702_704delTAA variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.702_704delTAA variant is observed in 168/66,738 (0.3%) alleles from individuals of European background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.702_704delTAA results in an in-frame deletion of a single Asparagine residue, denoted p.Asn235del. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726711 SCV000702323 uncertain significance not provided 2016-10-21 criteria provided, single submitter clinical testing

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