ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) (rs150550701)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000174413 SCV000225709 benign not specified 2014-12-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000878672 SCV000440814 benign Cranioectodermal dysplasia 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000878672 SCV001021611 benign Cranioectodermal dysplasia 1 2019-12-31 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376273 SCV001573356 likely benign Rod-cone dystrophy 2021-04-08 criteria provided, single submitter research The IFT122 c.1256G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: BS1, BP4. Based on this evidence we have classified this variant as Likely Benign.

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