ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.573C>T (p.Ser191=)

gnomAD frequency: 0.00046  dbSNP: rs139864844
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354179 SCV000339333 uncertain significance not provided 2016-01-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079317 SCV001059579 likely benign Spondylocostal dysostosis 3, autosomal recessive 2023-12-15 criteria provided, single submitter clinical testing

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