ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) (rs111738042)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086807 SCV000291096 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000243677 SCV000314947 likely benign not specified criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000440447 SCV000511742 likely benign not provided 2016-07-21 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory,University of Chicago RCV000243677 SCV000597129 benign not specified 2016-11-14 criteria provided, single submitter clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV000243677 SCV000864327 likely benign not specified 2017-04-19 criteria provided, single submitter clinical testing BS1,BP4,BP6; This alteration has an allele frequency that is greater than expected for the associated disease, is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Illumina Clinical Services Laboratory,Illumina RCV001121536 SCV001280163 likely benign Fanconi anemia, complementation group P 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Leiden Open Variation Database RCV000243677 SCV001364707 likely benign not specified 2012-08-31 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Janine Bakker.

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