ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[17] (p.Glu27_Glu29dup) (rs55889738)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173445 SCV000224560 benign not specified 2014-10-20 criteria provided, single submitter clinical testing
Invitae RCV000206622 SCV000262066 benign Alstrom syndrome 2018-01-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224588 SCV000281013 likely benign not provided 2015-09-29 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000206622 SCV000431895 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224588 SCV000610356 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000206622 SCV000784342 benign Alstrom syndrome 2018-03-05 criteria provided, single submitter clinical testing

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