ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.257C>T (p.Ala86Val) (rs3125630)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000147687 SCV000306331 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000020526 SCV000358050 benign Primary autosomal recessive microcephaly 7 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.
Athena Diagnostics Inc RCV000713533 SCV000844155 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Mendelics RCV000020526 SCV001135288 benign Primary autosomal recessive microcephaly 7 2019-05-28 criteria provided, single submitter clinical testing
GeneReviews RCV000020526 SCV000040983 benign Primary autosomal recessive microcephaly 7 2009-09-01 no assertion criteria provided curation Converted during submission to Benign.
Genetic Services Laboratory, University of Chicago RCV000147687 SCV000195138 likely benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000020526 SCV000734032 benign Primary autosomal recessive microcephaly 7 no assertion criteria provided clinical testing

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