ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)

gnomAD frequency: 0.00113  dbSNP: rs138187791
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001086749 SCV000371849 likely benign Exostoses, multiple, type 2 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.
Invitae RCV001086749 SCV000763210 benign Exostoses, multiple, type 2 2024-01-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728389 SCV000855957 uncertain significance not provided 2017-08-08 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000785179 SCV000923746 uncertain significance Seizures-scoliosis-macrocephaly syndrome 2019-01-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000728389 SCV003832299 uncertain significance not provided 2019-10-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965013 SCV004785508 benign EXT2-related disorder 2021-02-03 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
CeGaT Center for Human Genetics Tuebingen RCV000728389 SCV004810892 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing EXT2: BS2
ITMI RCV000120891 SCV000085059 not provided not specified 2013-09-19 no assertion provided reference population

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