ClinVar Miner

Submissions for variant NM_002296.4(LBR):c.843A>G (p.Val281=)

gnomAD frequency: 0.01280  dbSNP: rs61749339
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000270602 SCV000355093 benign Greenberg dysplasia 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001517402 SCV001158989 benign not provided 2023-11-09 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288662 SCV001475940 benign not specified 2019-11-21 criteria provided, single submitter clinical testing
Invitae RCV001517402 SCV001725889 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001517402 SCV001759297 likely benign not provided 2021-02-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278380 SCV002566875 benign Connective tissue disorder 2022-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502174 SCV002807239 likely benign Pelger-Huët anomaly; Greenberg dysplasia; Reynolds syndrome; Regressive spondylometaphyseal dysplasia 2021-09-16 criteria provided, single submitter clinical testing

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