ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.*1106_*1107del

gnomAD frequency: 0.02138  dbSNP: rs201556524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318737 SCV000477110 likely benign Nail-patella syndrome 2016-06-14 criteria provided, single submitter clinical testing

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