Submissions for variant NM_000061.3(BTK):c.615G>T (p.Glu205Asp)

gnomAD frequency: 0.00114  dbSNP: rs35877704

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000308563	SCV000339710	likely benign	not specified	2016-03-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085757	SCV000481392	likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000356123	SCV000481393	likely 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000308563	SCV000518395	likely benign	not specified	2015-08-24	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	RCV000308563	SCV000538511	likely benign	not specified	2016-06-02	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: 0.1% in ExAC , 30 hemizygotes
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515112	SCV000610166	likely benign	not provided	2017-08-16	criteria provided, single submitter	clinical testing
Invitae	RCV001085757	SCV000758507	benign	X-linked agammaglobulinemia with growth hormone deficiency	2024-01-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000515112	SCV000883530	likely benign	not provided	2023-08-22	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002494857	SCV002798789	likely benign	X-linked agammaglobulinemia; X-linked agammaglobulinemia with growth hormone deficiency	2022-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003949877	SCV004774861	likely benign	BTK-related disorder	2020-02-24	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).