ClinVar Miner

Submissions for variant NM_000717.5(CA4):c.807T>C (p.Asn269=)

gnomAD frequency: 0.00057  dbSNP: rs142961963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000319783 SCV000404398 likely benign Retinitis pigmentosa 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.
Invitae RCV000899609 SCV001043889 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699317 SCV001918025 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000899609 SCV001976151 likely benign not provided no assertion criteria provided clinical testing

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