ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.*69G>A (rs121908615)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173626 SCV001336727 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
OMIM RCV000006433 SCV000026616 pathogenic Charcot-Marie-Tooth disease, type 1C 2009-10-01 no assertion criteria provided literature only

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