ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.1623+9C>T

gnomAD frequency: 0.00001  dbSNP: rs1302154832
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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 RCV001484887 SCV001689311 likely benign Combined oxidative phosphorylation defect type 27 2023-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706206 SCV005218342 likely benign not provided criteria provided, single submitter not provided

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