ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.1260_1261del (p.Thr422fs)

dbSNP: rs397509394
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000043689 SCV000071700 pathogenic Yunis-Varon syndrome 2013-05-02 no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000043689 SCV004174434 uncertain significance Yunis-Varon syndrome 2016-01-06 no assertion criteria provided literature only

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