Submissions for variant NM_020639.3(RIPK4):c.360A>C (p.Arg120=)

gnomAD frequency: 0.13916  dbSNP: rs13049286

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000317325	SCV000436131	benign	Bartsocas-Papas syndrome 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.
GeneDx	RCV001672603	SCV001885209	benign	not provided	2019-09-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000317325	SCV002033629	benign	Bartsocas-Papas syndrome 1	2021-11-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001672603	SCV005310680	benign	not provided		criteria provided, single submitter	not provided