Submissions for variant NM_170784.3(MKKS):c.534C>T (p.Ile178=)

gnomAD frequency: 0.14499  dbSNP: rs17852625

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177309	SCV000229156	benign	not specified	2015-04-06	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000392530	SCV000432769	benign	McKusick-Kaufman syndrome	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 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	RCV001094636	SCV000432770	benign	Bardet-Biedl syndrome 6	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV000177309	SCV000529824	benign	not specified	2016-07-07	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082554	SCV001000352	benign	Bardet-Biedl syndrome; McKusick-Kaufman syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000132694	SCV005312310	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000020861	SCV000041452	benign	Bardet-Biedl syndrome	2009-10-13	no assertion criteria provided	curation	Converted during submission to Benign.
Department of Ophthalmology and Visual Sciences Kyoto University	RCV000132694	SCV000172647	probable-non-pathogenic	not provided		no assertion criteria provided	not provided	Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences	RCV004734528	SCV000313274	benign	MKKS-related disorder	2024-04-30	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000177309	SCV001959500	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177309	SCV001970563	benign	not specified		no assertion criteria provided	clinical testing