ClinVar Miner

Submissions for variant NM_022773.4(LMF1):c.1079-2A>C

dbSNP: rs769211813
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV001813911 SCV002061311 pathogenic Lipase deficiency, combined 2021-12-10 criteria provided, single submitter clinical testing

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