ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.648G>A (p.Pro216=)

gnomAD frequency: 0.00006  dbSNP: rs550024836
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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 RCV002078000 SCV002325531 benign not provided 2023-12-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494020 SCV002803472 likely benign Nail-patella syndrome; Nail-patella-like renal disease 2021-12-09 criteria provided, single submitter clinical testing

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