ClinVar Miner

Submissions for variant NM_017721.5(CC2D1A):c.197-5G>A

gnomAD frequency: 0.00003  dbSNP: rs373157979
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000929202 SCV001074827 likely benign not provided 2023-09-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818894 SCV002069417 uncertain significance not specified 2018-08-01 criteria provided, single submitter clinical testing

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