ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr)

gnomAD frequency: 0.00042  dbSNP: rs183119565
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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) RCV000178296 SCV000230351 benign not specified 2015-02-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288139 SCV000463421 benign 3M syndrome 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000895651 SCV001039704 benign not provided 2024-12-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000288139 SCV002808831 likely benign 3M syndrome 1 2021-12-28 criteria provided, single submitter clinical testing

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