ClinVar Miner

Submissions for variant NM_001711.6(BGN):c.257A>G (p.Lys86Arg)

gnomAD frequency: 0.01139  dbSNP: rs146073993
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001420695 SCV001623044 benign X-linked spondyloepimetaphyseal dysplasia 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516930 SCV001725304 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001516930 SCV001988821 benign not provided 2021-09-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: PMID: 18602826)
Ambry Genetics RCV002456683 SCV002739140 benign Cardiovascular phenotype 2019-02-26 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002495570 SCV002800388 benign X-linked spondyloepimetaphyseal dysplasia; Meester-Loeys syndrome 2021-10-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001516930 SCV003800497 benign not provided 2024-11-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001579756 SCV003929252 likely benign not specified 2023-04-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001516930 SCV005279738 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001516930 SCV001800131 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579756 SCV001808423 benign not specified no assertion criteria provided clinical testing

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