ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.534C>A (p.Ser178=)

gnomAD frequency: 0.00498  dbSNP: rs116316477
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893755 SCV001037711 benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000893755 SCV002038698 likely benign not provided 2021-02-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000893755 SCV005227472 likely benign not provided criteria provided, single submitter not provided

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