ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.1780-14C>T

gnomAD frequency: 0.81825  dbSNP: rs2757645
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251455 SCV000312863 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000615132 SCV000460492 benign Joubert syndrome 3 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001520434 SCV001729528 benign Familial aplasia of the vermis 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000615132 SCV001768852 benign Joubert syndrome 3 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001711824 SCV001944254 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000615132 SCV000734479 benign Joubert syndrome 3 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000251455 SCV001957174 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000251455 SCV001974695 benign not specified no assertion criteria provided clinical testing

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