ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) (rs150243147)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000223978 SCV000281610 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Athena Diagnostics Inc RCV000223978 SCV001142962 likely benign not provided 2020-09-09 criteria provided, single submitter clinical testing

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