ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) (rs200257398)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534661 SCV000631776 benign Alstrom syndrome 2020-12-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV001449720 SCV001652977 benign not specified 2020-09-04 criteria provided, single submitter clinical testing The p.Pro1104Ala variant in ALMS1 is classified as benign because it has been identified in 1.1% (121/10324) of Ashkenazi Jewish chromosomes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV001549994 SCV001770246 uncertain significance not provided 2021-05-25 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
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001549994 SCV001800614 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001549994 SCV001919118 likely benign not provided no assertion criteria provided clinical testing

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