Submissions for variant NM_000431.4(MVK):c.831C>T (p.Arg277=)

gnomAD frequency: 0.01061  dbSNP: rs104895353

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242677	SCV000304228	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400344	SCV000375794	benign	Mevalonic aciduria	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	RCV000083884	SCV000375795	benign	Hyperimmunoglobulin D with periodic fever	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001618260	SCV000604320	benign	not provided	2023-11-16	criteria provided, single submitter	clinical testing
Invitae	RCV000559530	SCV000645646	benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001618260	SCV001846954	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262666	SCV002542348	benign	Autoinflammatory syndrome	2022-02-22	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888452	SCV004707732	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Unité médicale des maladies autoinflammatoires, CHRU Montpellier	RCV000083884	SCV000115990	not provided	Hyperimmunoglobulin D with periodic fever		no assertion provided	not provided