ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.1841G>A (p.Gly614Asp) (rs148040591)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180334 SCV000232746 uncertain significance not provided 2015-06-03 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445510 SCV000536964 likely benign Monogenic diabetes 2018-01-12 criteria provided, single submitter research ACMG criteria: PP3 (2 predictors), BP4 (7 predictors), BP1 (missense in gene with truncating cause disease), Emory calls VUS, cases and controls similar frequency=likely benign
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825702 SCV000967148 likely benign not specified 2017-08-23 criteria provided, single submitter clinical testing p.Gly612Asp in exon 8 of ALMS1: This variant is not expected to have clinical si gnificance because it has been identified in 0.64% (63/9800) of African chromoso mes by the Exome Aggregation Consortium (ExAC,; d bSNP rs148040591).
Invitae RCV001086118 SCV001000876 likely benign Alstrom syndrome 2019-12-31 criteria provided, single submitter clinical testing

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