ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) (rs886038617)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251843 SCV000312408 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320205 SCV000431926 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000320205 SCV000734228 likely benign Alstrom syndrome no assertion criteria provided clinical testing

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