ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.333C>T (p.Phe111=)

gnomAD frequency: 0.00004  dbSNP: rs138385790
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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 RCV002152295 SCV002417485 likely benign not provided 2023-07-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002508040 SCV002807189 likely benign Nail-patella syndrome; Nail-patella-like renal disease 2021-08-30 criteria provided, single submitter clinical testing

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