ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) (rs200897773)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436491 SCV000535068 uncertain significance not provided 2021-04-29 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000464330 SCV000541347 benign Alstrom syndrome 2020-11-18 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000464330 SCV000897050 uncertain significance Alstrom syndrome 2018-10-31 criteria provided, single submitter clinical testing
Baylor Genetics RCV000464330 SCV001524204 uncertain significance Alstrom syndrome 2019-03-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sharon lab,Hadassah-Hebrew University Medical Center RCV000464330 SCV001160898 likely pathogenic Alstrom syndrome 2019-06-23 no assertion criteria provided research
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000436491 SCV001799295 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000436491 SCV001918337 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000436491 SCV001976032 uncertain significance not provided no assertion criteria provided clinical testing

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