ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) (rs143885319)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226431 SCV000290081 benign Alstrom syndrome 2020-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001697588 SCV000532669 benign not provided 2019-08-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25296579)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000433042 SCV000864127 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000433042 SCV000967037 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Leu921Leu in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.77% (170/9612) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad institute.org; dbSNP rs143885319).
Natera, Inc. RCV000226431 SCV001453445 likely benign Alstrom syndrome 2019-12-02 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000433042 SCV001923699 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000433042 SCV001926779 benign not specified no assertion criteria provided clinical testing

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