ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.870C>A (p.Ser290=)

gnomAD frequency: 0.00051  dbSNP: rs544649941
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 RCV001517475 SCV001725983 benign not provided 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495811 SCV002802403 likely benign Nail-patella syndrome; Nail-patella-like renal disease 2022-01-11 criteria provided, single submitter clinical testing

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