Submissions for variant NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln)

dbSNP: rs71245621

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000303287	SCV000331441	benign	not specified	2016-08-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000378063	SCV000431077	benign	Gonadotropin-independent familial sexual precocity	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283585	SCV000431078	benign	Hypergonadotropic hypogonadism	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000319880	SCV000431079	benign	Leydig cell agenesis	2016-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000303287	SCV000614018	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000303287	SCV000728653	benign	not specified	2017-07-24	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.
Invitae	RCV002057704	SCV002401901	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
OMIM	RCV002270219	SCV000035747	pathogenic	Luteinizing hormone/choriogonadotropin receptor, lq variant	2003-04-01	no assertion criteria provided	literature only