ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2349C>A (p.Ile783=)

gnomAD frequency: 0.00442  dbSNP: rs114357746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000878459 SCV001021369 benign Cranioectodermal dysplasia 1 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000878459 SCV001308106 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.
GeneDx RCV001567184 SCV001790827 likely benign not provided 2021-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000878459 SCV002805474 benign Cranioectodermal dysplasia 1 2021-07-27 criteria provided, single submitter clinical testing

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