ClinVar Miner

Submissions for variant NM_212482.4(FN1):c.807G>A (p.Lys269=)

gnomAD frequency: 0.00024  dbSNP: rs149709418
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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 RCV001510793 SCV001717920 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908805 SCV004724359 likely benign FN1-related disorder 2019-06-12 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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