ClinVar Miner

Submissions for variant NM_001042475.3(CEP85L):c.1020+17269T>G

gnomAD frequency: 0.04176  dbSNP: rs77186188
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454553 SCV000540059 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency in 1000Genomes: 67/2178=3%
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001803752 SCV001158092 benign Lissencephaly 10 2023-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516345 SCV001724614 benign Dilated cardiomyopathy 1P 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001637028 SCV001851860 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18241046, 24037902, 21167350)
OMIM RCV001516345 SCV000044004 pathogenic Dilated cardiomyopathy 1P 2008-05-01 no assertion criteria provided literature only

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