ClinVar Miner

Submissions for variant NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) (rs878855029)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232975 SCV000290318 benign Progressive familial heart block type 1B 2017-12-28 criteria provided, single submitter clinical testing
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues RCV000496011 SCV000584178 uncertain significance Brugada syndrome 2016-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620470 SCV000735058 benign Cardiovascular phenotype 2016-06-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852760 SCV000995478 likely benign Cardiomyopathy 2017-09-08 criteria provided, single submitter clinical testing

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