ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.8745A>G (p.Val2915=) (rs142611294)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226654 SCV000290107 benign Alstrom syndrome 2017-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000425601 SCV000532671 likely benign not specified 2017-12-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000425601 SCV000864103 benign not specified 2013-12-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000425601 SCV000967036 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Val2913Val 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 wit hin the splice consensus sequence, and has been identified in 1.73% (169/9796) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs142611294).

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