ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) (rs886062952)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000273849 SCV000474003 uncertain significance Mucopolysaccharidosis, MPS-III-C 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV001083544 SCV001043076 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-12-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675862 SCV000801585 likely benign not provided 2017-10-13 no assertion criteria provided clinical testing
Natera, Inc. RCV000273849 SCV001456795 likely benign Mucopolysaccharidosis, MPS-III-C 2019-10-28 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001699401 SCV001919930 benign not specified no assertion criteria provided clinical testing

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