ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) (rs201390755)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080878 SCV000290091 likely benign Alstrom syndrome 2020-12-04 criteria provided, single submitter clinical testing
Eurofins NTD, LLC RCV000731324 SCV000859128 uncertain significance not provided 2018-01-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000731324 SCV001152351 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001080878 SCV001716340 likely benign Alstrom syndrome 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000731324 SCV001788361 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000731324 SCV001799748 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701794 SCV001927157 benign not specified no assertion criteria provided clinical testing

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