Submissions for variant NM_001611.5(ACP5):c.442G>A (p.Val148Met)

gnomAD frequency: 0.09611  dbSNP: rs2305799

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000253285	SCV000306635	benign	not specified		criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000253285	SCV000538219	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522651	SCV001732236	benign	Spondyloenchondrodysplasia with immune dysregulation	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001522651	SCV001768967	benign	Spondyloenchondrodysplasia with immune dysregulation	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001651151	SCV001864451	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000253285	SCV004234057	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 24% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001651151	SCV005314660	benign	not provided		criteria provided, single submitter	not provided