ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.482-10G>A

gnomAD frequency: 0.00079  dbSNP: rs146783766
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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) RCV000153232 SCV000202706 benign not specified 2014-03-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514953 SCV002971581 benign not provided 2024-01-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907446 SCV004721195 likely benign FGD1-related disorder 2019-08-06 criteria provided, single submitter 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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