ClinVar Miner

Submissions for variant NM_001040167.2(LFNG):c.1036G>A (p.Val346Met)

dbSNP: rs71647813
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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 RCV000968076 SCV001115506 likely benign Spondylocostal dysostosis 3, autosomal recessive 2024-01-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004707511 SCV005228311 likely benign not provided criteria provided, single submitter not provided

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