ClinVar Miner

Submissions for variant NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp)

gnomAD frequency: 0.00009  dbSNP: rs142122090
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877899 SCV001020709 benign Multiple congenital exostosis 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001655634 SCV001866304 benign not provided 2020-08-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27616605, 19810120)
PreventionGenetics, part of Exact Sciences RCV003948263 SCV004759115 benign EXT1-related condition 2019-11-05 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).

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