ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.1647G>A (p.Glu549=)

gnomAD frequency: 0.00066  dbSNP: rs142114385
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180602 SCV000233074 uncertain significance not provided 2015-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000180602 SCV003026623 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907635 SCV004718632 likely benign FGD1-related disorder 2019-08-06 no assertion criteria provided 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).

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