ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.528A>C (p.Pro176=)

dbSNP: rs1267013309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080036 SCV003480067 likely benign not provided 2023-08-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926702 SCV004744591 benign FGD1-related disorder 2019-02-21 no assertion criteria provided 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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