Submissions for variant NM_003235.5(TG):c.2610G>T (p.Gln870His)

gnomAD frequency: 0.00229  dbSNP: rs2229843

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000880032	SCV001023095	benign	not provided	2024-06-24	criteria provided, single submitter	clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	RCV001002732	SCV001160726	uncertain significance	Premature ovarian failure	2019-04-22	criteria provided, single submitter	research	This variant was identified as homozygous in a female individual with hypergonadotropic hypogonadism.
Illumina Laboratory Services, Illumina	RCV000013527	SCV001324992	likely benign	Iodotyrosyl coupling defect	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000880032	SCV005051661	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	TG: BP4, BS2
OMIM	RCV000013527	SCV000033774	uncertain significance	Iodotyrosyl coupling defect	2005-09-01	no assertion criteria provided	literature only