ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) (rs73675469)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153363 SCV000202847 benign not specified 2013-12-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299864 SCV000474021 benign 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 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.
Invitae RCV001080564 SCV000774717 benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2020-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000675867 SCV001759848 benign not provided 2019-06-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675867 SCV000801592 benign not provided 2017-09-21 no assertion criteria provided clinical testing
Natera, Inc. RCV000299864 SCV001461507 benign Mucopolysaccharidosis, MPS-III-C 2020-09-16 no assertion criteria provided clinical testing

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