Submissions for variant NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)

gnomAD frequency: 0.00223  dbSNP: rs147444165

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001087358	SCV000466821	likely benign	Joubert syndrome 15	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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000441831	SCV000511599	uncertain significance	not provided	2016-11-18	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
GeneDx	RCV000441831	SCV000512572	likely benign	not provided	2019-10-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087358	SCV000652159	likely benign	Joubert syndrome 15	2024-01-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000441831	SCV005434524	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CEP41: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003922589	SCV004737569	likely benign	CEP41-related disorder	2021-11-05	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).