ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.756C>T (p.Phe252=)

gnomAD frequency: 0.00547  dbSNP: rs142326197
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243941 SCV000304051 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000873684 SCV001015726 benign Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001145883 SCV001306591 likely benign GM1 gangliosidosis 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 RCV001145884 SCV001306592 benign Mucopolysaccharidosis, MPS-IV-B 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001540245 SCV001758107 likely benign not provided 2019-11-13 criteria provided, single submitter clinical testing

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