Submissions for variant NM_000061.3(BTK):c.1899C>T (p.Cys633=)

gnomAD frequency: 0.37760  dbSNP: rs1135363

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254181	SCV000301786	benign	not specified	2016-01-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000343690	SCV000481384	benign	X-linked agammaglobulinemia with growth hormone deficiency	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV000407074	SCV000481385	benign	X-linked agammaglobulinemia	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000254181	SCV000512429	benign	not specified	2015-11-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000254181	SCV000538509	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
Invitae	RCV000343690	SCV001721002	benign	X-linked agammaglobulinemia with growth hormone deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000407074	SCV001775121	benign	X-linked agammaglobulinemia	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000343690	SCV001775122	benign	X-linked agammaglobulinemia with growth hormone deficiency	2021-07-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114414	SCV003799705	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000254181	SCV004233340	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 53% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.