ClinVar Miner

Submissions for variant NM_020247.5(COQ8A):c.1899C>T (p.Phe633=)

gnomAD frequency: 0.00008  dbSNP: rs150569155
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516498 SCV000612253 uncertain significance not specified 2016-11-03 criteria provided, single submitter clinical testing
Invitae RCV000899614 SCV001043894 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing

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