ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.10617C>T (p.Val3539=)

gnomAD frequency: 0.13438  dbSNP: rs2229492
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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 RCV000392359 SCV000354649 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina RCV000312313 SCV000354650 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001511120 SCV001718310 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001511120 SCV001837357 benign not provided 2018-08-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000392359 SCV001933156 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000312313 SCV001933157 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001511120 SCV005286227 benign not provided criteria provided, single submitter not provided

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