ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.681G>A (p.Glu227=)

gnomAD frequency: 0.00074  dbSNP: rs144687394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000408154 SCV000453791 benign Chondrocalcinosis 2 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.
Illumina Laboratory Services, Illumina RCV000311571 SCV000453792 benign Craniometaphyseal dysplasia, autosomal dominant 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.
Invitae RCV000906702 SCV001051360 likely benign not provided 2023-10-15 criteria provided, single submitter clinical testing
GeneDx RCV000906702 SCV001791081 likely benign not provided 2021-06-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000311571 SCV002525128 benign Craniometaphyseal dysplasia, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing

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