ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.972G>A (p.Ser324=)

gnomAD frequency: 0.04179  dbSNP: rs12700028
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251108 SCV000306225 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511206 SCV001718411 benign Spondylocostal dysostosis 3, autosomal recessive 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001675700 SCV001893791 benign not provided 2018-09-10 criteria provided, single submitter clinical testing

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