ClinVar Miner

Submissions for variant NM_024537.3(CARS2):c.-48C>T

gnomAD frequency: 0.59027  dbSNP: rs3818496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429019 SCV000512478 benign not specified 2015-12-02 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.
Genome-Nilou Lab RCV001554576 SCV001775831 benign Combined oxidative phosphorylation defect type 27 2021-07-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708793 SCV005229865 benign not provided criteria provided, single submitter not provided

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