ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[16] (p.Glu28_Glu29dup) (rs55889738)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000202933 SCV000051977 benign not specified 2015-06-23 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000206303 SCV000734227 benign Alstrom syndrome no assertion criteria provided clinical testing

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