ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.12237A>G (p.Ala4079=) (rs374508659)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825108 SCV000966362 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Ala4077Ala in exon 20 of ALMS1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 3/66722 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs374508659).

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