ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu)

gnomAD frequency: 0.00273  dbSNP: rs139486406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000354549 SCV000340129 likely benign not specified 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV000893166 SCV001037083 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124608 SCV001283581 likely benign Desbuquois 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000893166 SCV004698511 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CANT1: BP4

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