Submissions for variant NM_018668.5(VPS33B):c.1332G>A (p.Thr444=)

gnomAD frequency: 0.00416  dbSNP: rs147407982

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000357574	SCV000394446	benign	Arthrogryposis, renal dysfunction, and cholestasis 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000967392	SCV001114776	benign	not provided	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000967392	SCV001772183	likely benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000967392	SCV005214021	likely benign	not provided		criteria provided, single submitter	not provided