Submissions for variant NM_016464.5(TMEM138):c.387G>A (p.Leu129=)

gnomAD frequency: 0.00004  dbSNP: rs553815473

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000970612	SCV000372603	likely benign	Joubert syndrome 16	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.
Invitae	RCV000970612	SCV001118201	benign	Joubert syndrome 16	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001642949	SCV001857354	benign	not provided	2019-12-26	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001642949	SCV002034144	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001642949	SCV002038056	likely benign	not provided		no assertion criteria provided	clinical testing