Submissions for variant NM_000222.3(KIT):c.67+4G>A

gnomAD frequency: 0.00969  dbSNP: rs72550820

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205729	SCV000262157	benign	Gastrointestinal stromal tumor	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000250016	SCV000303059	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001025554	SCV001187758	benign	Hereditary cancer-predisposing syndrome	2018-09-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV001147073	SCV001307845	likely benign	Piebaldism	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.
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	RCV001147073	SCV001435249	benign	Piebaldism		criteria provided, single submitter	research	The heterozygous c.67+4G>A variant in KIT has been reported in an individual with piebaldism (PMID: 7529964) but has also been reported in >2% of South Asian chromosomes and 15 homozygotes by ExAC (http://gnomad.broadinstitute.org/). In summary, this variant meets criteria to be classified as benign for autosomal dominant piebaldism.
GeneDx	RCV001610525	SCV001840493	benign	not provided	2020-08-20	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23020152, 27535533, 7529964, 15901127, 22264755)
Sema4, Sema4	RCV001025554	SCV002536404	benign	Hereditary cancer-predisposing syndrome	2020-02-24	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000205729	SCV004015786	benign	Gastrointestinal stromal tumor	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001610525	SCV004150650	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KIT: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610525	SCV004563056	benign	not provided	2023-11-07	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000250016	SCV001797589	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250016	SCV001807313	benign	not specified		no assertion criteria provided	clinical testing