ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.528T>C (p.Ile176=)

gnomAD frequency: 0.00003  dbSNP: rs759194567
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000609873 SCV000718995 likely benign not specified 2017-05-23 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 RCV001417021 SCV001619215 likely benign Combined oxidative phosphorylation defect type 27 2021-08-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704114 SCV005218351 likely benign not provided criteria provided, single submitter not provided

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