ClinVar Miner

Submissions for variant NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=)

gnomAD frequency: 0.24480  dbSNP: rs2228347
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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 RCV000319755 SCV000354593 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 RCV000353544 SCV000354594 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 RCV001523640 SCV001733388 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001523640 SCV001864419 benign not provided 2018-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000319755 SCV001933136 benign Lethal Kniest-like syndrome 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000353544 SCV001933137 benign Schwartz-Jampel syndrome 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523640 SCV005286201 benign not provided criteria provided, single submitter not provided

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