ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1011C>T (p.Pro337=)

gnomAD frequency: 0.00004  dbSNP: rs142857490
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530955 SCV000655849 likely benign Combined oxidative phosphorylation defect type 27 2024-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000605916 SCV000719541 likely benign not specified 2017-05-25 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.
CeGaT Center for Human Genetics Tuebingen RCV003403335 SCV004135665 likely benign not provided 2022-06-01 criteria provided, single submitter clinical testing CARS2: BP4, BP7

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