ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.480G>A (p.Thr160=)

gnomAD frequency: 0.00009  dbSNP: rs151053753
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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 RCV001395965 SCV001597684 likely benign Spondylocostal dysostosis 3, autosomal recessive 2023-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003963266 SCV004781012 likely benign LFNG-related disorder 2023-05-23 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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