ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) (rs149371169)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000175684 SCV000171959 benign not specified 2013-10-28 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175684 SCV000227219 benign not specified 2014-12-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000175684 SCV000615754 likely benign not specified 2016-10-28 criteria provided, single submitter clinical testing
Invitae RCV000546672 SCV000654207 benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717210 SCV000848059 likely benign Seizures 2016-10-19 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV001120424 SCV001278908 likely benign Myoclonic epilepsy, familial infantile 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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