ClinVar Miner

Submissions for variant NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)

gnomAD frequency: 0.00194  dbSNP: rs142381345
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000252525 SCV000312883 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252525 SCV000332242 benign not specified 2015-06-23 criteria provided, single submitter clinical testing
GeneDx RCV001697723 SCV000531528 likely benign not provided 2021-09-15 criteria provided, single submitter clinical testing
Invitae RCV000557372 SCV000634566 benign Familial aplasia of the vermis 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154600 SCV001315976 likely benign Joubert syndrome 3 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001697723 SCV002034122 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000252525 SCV002034702 benign not specified no assertion criteria provided clinical testing

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