ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) (rs34628045)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205185 SCV000262472 benign Alstrom syndrome 2015-11-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000602032 SCV000711904 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser524_Leu525insPro in exon 8 of ALMS1: This variant is not expected to have c linical significance because it has been identified in 77.61% (6676/8602) of Eas t Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broad; dbSNP rs587621330).
Integrated Genetics/Laboratory Corporation of America RCV000602032 SCV000864126 benign not specified 2013-03-25 criteria provided, single submitter clinical testing

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