ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.297+13G>A

dbSNP: rs397517381
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039381 SCV000063065 likely benign not specified 2012-07-18 criteria provided, single submitter clinical testing 297+13G>A in intron 03 of TMEM43: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. 297+13G>A in intron 03 of TMEM43 (allele frequency= n/a)

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