ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)

gnomAD frequency: 0.00373  dbSNP: rs78889849
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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) RCV000176562 SCV000228237 benign not specified 2015-03-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290707 SCV000354953 likely benign Schwartz-Jampel syndrome 2018-01-13 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 RCV000347950 SCV000354954 likely benign Lethal Kniest-like syndrome 2018-01-13 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.
Athena Diagnostics Inc RCV000176562 SCV000613717 benign not specified 2017-06-19 criteria provided, single submitter clinical testing
Invitae RCV000885938 SCV001029418 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885938 SCV001250371 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing HSPG2: BP4, BS2
GeneDx RCV000885938 SCV001908993 benign not provided 2020-04-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000885938 SCV002049613 likely benign not provided 2023-10-19 criteria provided, single submitter clinical testing

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