Submissions for variant NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser)

gnomAD frequency: 0.03897  dbSNP: rs12470652

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126622	SCV000170129	benign	not specified	2014-05-12	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.
Illumina Laboratory Services, Illumina	RCV000305995	SCV000431044	benign	Hypergonadotropic hypogonadism	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000342135	SCV000431045	benign	Leydig cell agenesis	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393912	SCV000431046	benign	Gonadotropin-independent familial sexual precocity	2017-04-27	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055659	SCV002472207	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002055659	SCV005243592	benign	not provided		criteria provided, single submitter	not provided