ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.216C>T (p.Cys72=)

gnomAD frequency: 0.10090  dbSNP: rs2230906
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248092 SCV000307983 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000390728 SCV000459241 benign Blood group, I system 2018-01-12 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 RCV001510678 SCV001717774 benign Cataract 13 with adult I phenotype 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001696192 SCV001916056 benign not provided 2018-10-09 criteria provided, single submitter clinical testing

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