ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.723C>T (p.Ala241=)

gnomAD frequency: 0.00855  dbSNP: rs117053987
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250140 SCV000304619 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000250140 SCV000331033 benign not specified 2015-06-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001079976 SCV000399643 likely benign Mucopolysaccharidosis, MPS-IV-A 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079976 SCV001099273 benign Mucopolysaccharidosis, MPS-IV-A 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001079976 SCV002045063 benign Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000675540 SCV002563360 benign not provided 2024-07-01 criteria provided, single submitter clinical testing GALNS: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000675540 SCV005219625 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675540 SCV000801231 likely benign not provided 2017-08-16 no assertion criteria provided clinical testing

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