ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.508G>A (p.Glu170Lys)

gnomAD frequency: 0.00002  dbSNP: rs199738980
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757659 SCV002005820 uncertain significance not provided 2019-12-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002488618 SCV002797673 uncertain significance Nail-patella syndrome; Nail-patella-like renal disease 2021-08-22 criteria provided, single submitter clinical testing

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