ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.612C>T (p.Tyr204=)

gnomAD frequency: 0.00105  dbSNP: rs147266260
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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 RCV000245028 SCV000306221 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002057430 SCV002414350 benign Spondylocostal dysostosis 3, autosomal recessive 2022-10-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705085 SCV005228308 likely benign not provided criteria provided, single submitter not provided

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