ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) (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 2019-02-01 criteria provided, single submitter research ACMG criteria: BP4 (Revel score 0.036 and 4 predictors; not using PP3/2 predictors), BA1 (2.6% overall MAF in gnomAD, 7.5% MAF in gnomAD African), BS2 (136 homozygotes in gnomAD), BP1 (missense in gene with truncating known)= benign
Invitae RCV001079320 SCV000554293 benign Alstrom syndrome 2019-12-31 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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