ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)

gnomAD frequency: 0.00305  dbSNP: rs112062179
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180084 SCV000232452 likely benign not specified 2015-04-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000310089 SCV000354633 likely benign Schwartz-Jampel syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV000364726 SCV000354634 likely benign Lethal Kniest-like syndrome 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710144 SCV000603976 likely benign not provided 2023-11-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710144 SCV000613691 benign not provided 2018-04-27 criteria provided, single submitter clinical testing
Invitae RCV000710144 SCV001034735 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000710144 SCV001502505 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing HSPG2: BP4, BS2
GeneDx RCV000710144 SCV001804171 likely benign not provided 2021-08-01 criteria provided, single submitter clinical testing

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