ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.609C>T (p.Asn203=)

gnomAD frequency: 0.00007  dbSNP: rs143930715
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002544939 SCV001065370 likely benign Spondylocostal dysostosis 3, autosomal recessive 2023-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707479 SCV005228305 likely benign not provided criteria provided, single submitter not provided

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