ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.655+7T>G

dbSNP: rs1594357007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000914334 SCV001059506 likely benign Combined oxidative phosphorylation defect type 27 2020-09-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705911 SCV005218347 likely benign not provided criteria provided, single submitter not provided

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