ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.5742C>T (p.His1914=)

gnomAD frequency: 0.00995  dbSNP: rs62642522
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000272089 SCV000354861 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 RCV000308443 SCV000354862 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 RCV000958431 SCV001105274 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000958431 SCV001144172 benign not provided 2019-07-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000958431 SCV001158939 benign not provided 2023-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000958431 SCV001949652 benign not provided 2018-11-07 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278370 SCV002566774 likely benign Connective tissue disorder 2018-07-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494919 SCV002801905 likely benign Lethal Kniest-like syndrome; Schwartz-Jampel syndrome type 1 2021-07-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000958431 SCV005288227 benign not provided criteria provided, single submitter not provided

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