ClinVar Miner

Submissions for variant NM_024876.4(COQ8B):c.1347C>T (p.Phe449=)

gnomAD frequency: 0.00400  dbSNP: rs142420160
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000676537 SCV000730278 benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Invitae RCV000676537 SCV001030691 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676537 SCV000802322 likely benign not provided 2018-03-19 no assertion criteria provided clinical testing
Genetic Services Laboratory, University of Chicago RCV003151113 SCV003839372 benign not specified 2022-07-20 no assertion criteria provided clinical testing

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