ClinVar Miner

Submissions for variant NM_054027.6(ANKH):c.432+13G>A

gnomAD frequency: 0.00728  dbSNP: rs112742497
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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 RCV000295768 SCV000453806 benign Craniometaphyseal dysplasia, autosomal dominant 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.
Illumina Laboratory Services, Illumina RCV000348326 SCV000453807 benign Chondrocalcinosis 2 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.
GeneDx RCV001584069 SCV001813717 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing
Invitae RCV001584069 SCV002408326 benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000295768 SCV002525131 benign Craniometaphyseal dysplasia, autosomal dominant 2021-12-05 criteria provided, single submitter clinical testing

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