ClinVar Miner

Submissions for variant NM_207122.2(EXT2):c.1080-18T>A

gnomAD frequency: 0.26140  dbSNP: rs11037882
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180027 SCV000232372 benign not specified 2014-07-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000180027 SCV000317227 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001513854 SCV001721543 benign Exostoses, multiple, type 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001640272 SCV001857715 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001513854 SCV001933352 benign Exostoses, multiple, type 2 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701545 SCV001933363 benign Seizures-scoliosis-macrocephaly syndrome 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316079 SCV004017512 benign Exostoses, multiple, type 1 2023-07-07 criteria provided, single submitter clinical testing

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