ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.*21G>C (rs1134634)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000381390 SCV000448100 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291712 SCV000448101 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000243242 SCV000306418 benign not specified criteria provided, single submitter clinical testing

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