ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)

dbSNP: rs1569552936
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770598 SCV000902047 pathogenic Cardiomyopathy 2016-05-05 criteria provided, single submitter clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236840 SCV003935878 likely pathogenic 3-Methylglutaconic aciduria type 2 2020-08-03 criteria provided, single submitter clinical testing

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