ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.399C>T (p.Tyr133=)

dbSNP: rs876657589
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Total submissions: 2
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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 RCV000216949 SCV000270922 likely benign not specified 2015-04-07 criteria provided, single submitter clinical testing p.Tyr133Tyr in exon 5 of TMEM43: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health RCV001804947 SCV002053612 likely benign Cardiomyopathy 2021-03-09 criteria provided, single submitter clinical testing

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