ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1764+45T>G

gnomAD frequency: 0.75139  dbSNP: rs1558572
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000114166 SCV000306426 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554362 SCV001775588 benign Joubert syndrome 9 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554363 SCV001775589 benign Meckel syndrome, type 6 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001618261 SCV001846068 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618261 SCV005300752 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000114166 SCV000147717 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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