Submissions for variant NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)

gnomAD frequency: 0.00163  dbSNP: rs191125006

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179367	SCV000231603	likely benign	not specified	2015-02-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179367	SCV000306320	likely benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV001704855	SCV000730168	likely benign	not provided	2020-09-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625459	SCV000745453	likely benign	Joubert syndrome 14	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000625459	SCV001098493	benign	Joubert syndrome 14	2024-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625459	SCV001298868	uncertain significance	Joubert syndrome 14	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001704855	SCV004148412	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	TMEM237: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center	RCV001704855	SCV001918856	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001704855	SCV001978421	likely benign	not provided		no assertion criteria provided	clinical testing