ClinVar Miner

Submissions for variant NM_005476.7(GNE):c.711G>A (p.Leu237=) (rs724159957)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV000149557 SCV000196519 uncertain significance GNE myopathy 2014-11-01 no assertion criteria provided clinical testing 6 patients from 2 non-Jewish Persian families were homozygous for this variant. Variant co-segregated with disease in the families. Splicing prediction programs predict a novel splice site is created.

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