ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.882+17A>G

gnomAD frequency: 0.00005  dbSNP: rs370443570
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431541 SCV000534458 likely benign not specified 2016-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063596 SCV002489421 likely benign Arrhythmogenic right ventricular dysplasia 5 2025-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000431541 SCV001925825 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700180 SCV001926507 likely benign not provided no assertion criteria provided clinical testing

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