ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2988T>C (p.Asn996=)

gnomAD frequency: 0.00290  dbSNP: rs78178397
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536370 SCV000640296 benign Saldino-Mainzer syndrome 2024-01-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000536370 SCV001273799 likely benign Saldino-Mainzer syndrome 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.
Fulgent Genetics, Fulgent Genetics RCV002491016 SCV002800352 likely benign Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-08-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700204 SCV001919157 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727744 SCV001975858 likely benign not provided no assertion criteria provided clinical testing

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