ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.1998+9C>T

gnomAD frequency: 0.00461  dbSNP: rs377228309
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174906 SCV000226301 likely benign not specified 2015-02-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306188 SCV000355005 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.
Illumina Laboratory Services, Illumina RCV000360913 SCV000355006 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000950361 SCV000603985 benign not provided 2020-05-15 criteria provided, single submitter clinical testing
Invitae RCV000950361 SCV001096665 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000174906 SCV001477281 benign not specified 2019-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002277347 SCV002566748 likely benign Connective tissue disorder 2019-02-01 criteria provided, single submitter clinical testing

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