ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=) (rs116854981)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229369 SCV000290108 benign Alstrom syndrome 2020-11-26 criteria provided, single submitter clinical testing
GeneDx RCV001711792 SCV000723050 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000603866 SCV001482105 likely benign not specified 2021-02-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603866 SCV001652978 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ala2972Ala in exon 10 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 1.45% (125/8626) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs116854981).

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