ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.230-6C>T (rs1861049)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079446 SCV000111325 benign not specified 2013-09-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079446 SCV000306422 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304515 SCV000447698 likely benign Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363833 SCV000447699 likely benign Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000860403 SCV001000445 benign not provided 2019-02-28 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079446 SCV000147714 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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