ClinVar Miner

Submissions for variant NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=)

gnomAD frequency: 0.00018  dbSNP: rs61746076
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
Genetic Services Laboratory, University of Chicago RCV000145423 SCV000192512 benign not specified 2013-04-08 criteria provided, single submitter clinical testing
Invitae RCV000888176 SCV001031793 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing

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