Submissions for variant NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)

gnomAD frequency: 0.00508  dbSNP: rs150920905

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476421	SCV000557435	benign	Bardet-Biedl syndrome; McKusick-Kaufman syndrome	2025-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001140042	SCV001300254	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	RCV001140796	SCV001301089	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV002285334	SCV002575308	likely benign	not provided	2021-05-06	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV002285334	SCV005207348	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700381	SCV001924914	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001700381	SCV001929583	benign	not specified		no assertion criteria provided	clinical testing