ClinVar Miner

Submissions for variant NM_001358921.2(COQ2):c.868C>T (p.Leu290=)

gnomAD frequency: 0.00002  dbSNP: rs375066516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730523 SCV000858266 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000730523 SCV003444926 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing

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