ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) (rs77021998)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195558 SCV000252880 benign Fanconi anemia 2017-11-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000437114 SCV000511776 likely benign not provided 2016-10-10 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000500511 SCV000597132 likely benign not specified 2016-05-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000500511 SCV000708492 likely benign not specified 2017-05-10 criteria provided, single submitter clinical testing

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