ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[13] (p.Glu29del) (rs55889738)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173444 SCV000224559 benign not specified 2017-04-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000173444 SCV000246361 likely benign not specified 2013-11-04 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000173444 SCV000258080 benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Invitae RCV000205518 SCV000262231 uncertain significance Alstrom syndrome 2018-11-20 criteria provided, single submitter clinical testing This variant, c.72_77del, results in the deletion of 2 amino acid(s) of the ALMS1 protein (p.Glu28_Glu29del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 193378). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics,PreventionGenetics RCV000173444 SCV000312404 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205518 SCV000431898 benign Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000205518 SCV000734226 benign Alstrom syndrome no assertion criteria provided clinical testing

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