Submissions for variant NM_004287.5(GOSR2):c.111C>T (p.Ile37=)

gnomAD frequency: 0.00004  dbSNP: rs755662176

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000187613	SCV000241208	benign	not specified	2014-07-14	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	RCV001418293	SCV001620518	likely benign	Progressive myoclonic epilepsy	2024-01-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002054203	SCV002498295	likely benign	not provided	2022-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002433843	SCV002750507	likely benign	Inborn genetic diseases	2018-06-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics	RCV002500573	SCV002808804	likely benign	Progressive myoclonic epilepsy type 6	2021-12-14	criteria provided, single submitter	clinical testing