ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.85G>C (p.Ala29Pro)

gnomAD frequency: 0.00008  dbSNP: rs752282314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000981509 SCV001129482 benign not provided 2023-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000981509 SCV001143905 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943281 SCV004757011 likely benign FGD1-related condition 2023-01-29 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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