ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)

gnomAD frequency: 0.01381  dbSNP: rs34297805
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245411 SCV000302952 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001082989 SCV000407347 benign Mucopolysaccharidosis, MPS-III-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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
SIB Swiss Institute of Bioinformatics RCV000245411 SCV000803485 benign not specified 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Invitae RCV001082989 SCV001116108 benign Mucopolysaccharidosis, MPS-III-A 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082989 SCV002045512 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676148 SCV000801895 benign not provided 2016-07-27 no assertion criteria provided clinical testing

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