Submissions for variant NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg)

gnomAD frequency: 0.59589  dbSNP: rs2071888

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455054	SCV000540498	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency, associated with juvenile rheumatoid arthritis
Mendelics	RCV000987678	SCV001137094	benign	MHC class I deficiency	2019-05-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000987678	SCV001726933	benign	MHC class I deficiency	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000987678	SCV002062207	benign	MHC class I deficiency	2021-07-15	criteria provided, single submitter	clinical testing
GenomeConnect, ClinGen	RCV001824779	SCV002074792	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.