ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.327G>T (p.Pro109=)

gnomAD frequency: 0.00002  dbSNP: rs376342763
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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) RCV000728394 SCV000855962 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001449422 SCV001652538 likely benign Spondylocostal dysostosis 3, autosomal recessive 2022-07-06 criteria provided, single submitter clinical testing

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