Submissions for variant NM_017777.4(MKS1):c.1436G>A (p.Arg479His)

gnomAD frequency: 0.00476  dbSNP: rs111315726

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193368	SCV000248050	benign	not specified	2020-07-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082508	SCV000260361	benign	Familial aplasia of the vermis; Meckel-Gruber syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224657	SCV000281253	uncertain significance	not provided	2015-06-04	criteria provided, single submitter	clinical testing	Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences	RCV000193368	SCV000312930	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000224657	SCV000513614	benign	not provided	2018-11-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001128312	SCV001287739	benign	Bardet-Biedl syndrome 13	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001128313	SCV001287740	uncertain significance	Meckel syndrome, type 1	2018-01-12	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	RCV000224657	SCV005330897	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	MKS1: BP4, BS1
Natera, Inc.	RCV001128313	SCV001453197	benign	Meckel syndrome, type 1	2019-11-11	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000193368	SCV001920840	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000193368	SCV001928496	benign	not specified		no assertion criteria provided	clinical testing