Submissions for variant NM_000549.5(TSHB):c.40A>G (p.Thr14Ala)

gnomAD frequency: 0.97659  dbSNP: rs10776792

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242832	SCV000305264	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000396537	SCV000347406	benign	Congenital hypothyroidism	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001618392	SCV001845430	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28515030, 27884173, 10411113, 20981092)
Genome-Nilou Lab	RCV000610072	SCV002101029	benign	Isolated thyroid-stimulating hormone deficiency	2021-09-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618392	SCV004379882	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001618392	SCV005280475	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610072	SCV000733937	benign	Isolated thyroid-stimulating hormone deficiency		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000242832	SCV001917429	benign	not specified		no assertion criteria provided	clinical testing