ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.482-4A>G

gnomAD frequency: 0.05791  dbSNP: rs62444250
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253235 SCV000306220 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000560182 SCV000641190 benign Spondylocostal dysostosis 3, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001683000 SCV001903917 benign not provided 2020-03-13 criteria provided, single submitter clinical testing

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