ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.139+19C>T

gnomAD frequency: 0.00006  dbSNP: rs371424668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247952 SCV000308823 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058109 SCV002364006 benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494736 SCV002809135 likely benign Nail-patella syndrome; Nail-patella-like renal disease 2022-02-02 criteria provided, single submitter clinical testing

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