ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.327-17G>A

gnomAD frequency: 0.00026  dbSNP: rs372620265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002125878 SCV002449973 likely benign not provided 2024-01-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500246 SCV002808069 likely benign Nail-patella syndrome; Nail-patella-like renal disease 2021-11-30 criteria provided, single submitter clinical testing

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