ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.512+12G>A

gnomAD frequency: 0.00003  dbSNP: rs766205020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614373 SCV000721569 likely benign not specified 2017-07-28 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 RCV002529643 SCV003032282 likely benign Arrhythmogenic right ventricular dysplasia 5 2023-10-15 criteria provided, single submitter clinical testing

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