ClinVar Miner

Submissions for variant NM_024537.4(CARS2):c.408C>T (p.Pro136=)

gnomAD frequency: 0.00001  dbSNP: rs755243580
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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 RCV000957293 SCV001104094 likely benign Combined oxidative phosphorylation defect type 27 2024-01-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004584834 SCV005075553 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CARS2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV004584834 SCV005218352 likely benign not provided criteria provided, single submitter not provided

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