Submissions for variant NM_000431.4(MVK):c.155G>A (p.Ser52Asn)

gnomAD frequency: 0.11415  dbSNP: rs7957619

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000117650	SCV000304223	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000286141	SCV000375766	likely benign	Mevalonic aciduria	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343154	SCV000375767	likely benign	Hyperimmunoglobulin D with periodic fever	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000345327	SCV000483319	likely benign	Methylmalonic acidemia	2016-06-14	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000117650	SCV000539821	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001725124	SCV000604315	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001514415	SCV001722255	benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001725124	SCV001960464	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32238606)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262709	SCV002542324	benign	Autoinflammatory syndrome	2016-12-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117650	SCV000151882	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000117650	SCV001928108	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117650	SCV001954293	benign	not specified		no assertion criteria provided	clinical testing
GenomeConnect, ClinGen	RCV001725124	SCV002074704	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.