ClinVar Miner

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

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230280 SCV000291096 benign Fanconi anemia 2018-01-08 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).

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