ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) (rs55889738)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000202933 SCV000051977 benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000202933 SCV000258079 benign not specified 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000206303 SCV000262473 benign Alstrom syndrome 2015-11-12 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000202933 SCV000312406 benign not specified criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000202933 SCV000344215 likely benign not specified 2016-08-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206303 SCV000431897 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206303 SCV000431899 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206303 SCV000431900 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206303 SCV000431901 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000206303 SCV000431902 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001573683 SCV001872555 benign not provided 2016-10-07 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000206303 SCV000734227 benign Alstrom syndrome no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573683 SCV001799920 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000202933 SCV001930009 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000202933 SCV001958744 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000202933 SCV001970250 benign not specified no assertion criteria provided clinical testing

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