Submissions for variant NM_000431.4(MVK):c.78+7_78+10del

gnomAD frequency: 0.00004  dbSNP: rs771523264

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235967	SCV000293806	likely benign	not specified	2016-02-05	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	RCV000885892	SCV001029367	likely benign	Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever	2024-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003221881	SCV003917239	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	MVK: BP4
PreventionGenetics, part of Exact Sciences	RCV004532983	SCV004722195	likely benign	MVK-related disorder	2019-06-11	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).