ClinVar Miner

Submissions for variant NM_015631.6(TCTN3):c.889-8G>A

gnomAD frequency: 0.00029  dbSNP: rs374331871
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612226 SCV000727125 likely benign not specified 2018-01-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000951818 SCV001098257 benign Orofacial-digital syndrome IV; Joubert syndrome 18 2024-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000951818 SCV002804513 likely benign Orofacial-digital syndrome IV; Joubert syndrome 18 2022-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573520 SCV004127154 benign not provided 2023-08-01 criteria provided, single submitter clinical testing TCTN3: BP4, BS1, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573520 SCV001799516 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001573520 SCV001928582 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573520 SCV001967161 likely benign not provided no assertion criteria provided clinical testing

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