ClinVar Miner

Submissions for variant NM_005022.4(PFN1):c.417G>A (p.Gln139=)

gnomAD frequency: 0.00005  dbSNP: rs2233657
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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 RCV002125012 SCV002408053 benign not provided 2023-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756364 SCV005349511 likely benign PFN1-related disorder 2022-10-19 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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