ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) (rs726070)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250672 SCV000316477 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293292 SCV000427254 benign Congenital ichthyosis of skin 2018-03-06 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.
Mendelics RCV000002995 SCV001136207 benign Autosomal recessive congenital ichthyosis 4B 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000002995 SCV000023153 pathogenic Autosomal recessive congenital ichthyosis 4B 2005-05-01 no assertion criteria provided literature only

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