ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.6305C>T (p.Ser2102Leu) (rs28730854)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423082 SCV000524315 benign not specified 2016-10-03 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.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445438 SCV000536977 benign Monogenic diabetes 2016-07-19 criteria provided, single submitter research ACMG Criteria: PP3, BS1 (1000G EUR), BS2 (ExAC), BP1, BP4
Invitae RCV000475776 SCV000554293 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000423082 SCV000711886 benign not specified 2016-03-21 criteria provided, single submitter clinical testing p.Ser2100Leu in exon 8 of ALMS1: This variant is not expected to have clinical s ignificance because it has been identified in 3.86% (2511/65072) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs28730854).
Integrated Genetics/Laboratory Corporation of America RCV000423082 SCV000864130 benign not specified 2013-05-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000475776 SCV001143004 benign not provided 2018-12-12 criteria provided, single submitter clinical testing

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