Submissions for variant NM_000431.4(MVK):c.924C>T (p.Leu308=)

gnomAD frequency: 0.00140  dbSNP: rs72648042

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724566	SCV000224829	uncertain significance	not provided	2015-02-11	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000194317	SCV000248097	uncertain significance	not specified	2014-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000194317	SCV000304229	likely benign	not specified		criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000724566	SCV000604317	likely benign	not provided	2019-08-13	criteria provided, single submitter	clinical testing
Invitae	RCV001085707	SCV000645647	likely benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001110867	SCV001268351	uncertain significance	Mevalonic aciduria	2018-02-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001110868	SCV001268352	uncertain significance	Hyperimmunoglobulin D with periodic fever	2018-02-13	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000724566	SCV001501436	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	MVK: BP4, BP7
GeneDx	RCV000724566	SCV001855455	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000194317	SCV001984733	likely benign	not specified	2020-08-20	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262765	SCV002543534	likely benign	Autoinflammatory syndrome	2020-12-15	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000724566	SCV001924703	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000724566	SCV001930109	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724566	SCV001974402	likely benign	not provided		no assertion criteria provided	clinical testing