ClinVar Miner

Submissions for variant NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln)

gnomAD frequency: 0.00737  dbSNP: rs183329050
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729038 SCV000856672 benign not specified 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000952832 SCV001099363 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001140965 SCV001301274 benign 3M syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000729038 SCV002050984 likely benign not specified 2021-12-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000729038 SCV002070826 likely benign not specified 2020-05-12 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000952832 SCV004151474 benign not provided 2024-12-01 criteria provided, single submitter clinical testing OBSL1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000952832 SCV005258927 likely benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000952832 SCV001799700 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000952832 SCV001926323 likely benign not provided no assertion criteria provided clinical testing

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