ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.304G>A (p.Gly102Ser)

gnomAD frequency: 0.29831  dbSNP: rs2297950
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000010134 SCV000353426 benign Chitotriosidase deficiency 2018-03-06 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 RCV000010134 SCV000837660 benign Chitotriosidase deficiency 2019-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000675725 SCV001950665 benign not provided 2020-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24060732, 19725875, 17000706)
OMIM RCV000010134 SCV000030355 affects Chitotriosidase deficiency 2007-09-01 no assertion criteria provided literature only
Mayo Clinic Laboratories, Mayo Clinic RCV000675725 SCV000801439 uncertain significance not provided 2015-10-22 no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000675725 SCV001749724 not provided not provided no assertion provided phenotyping only Variant interpreted as Benign and reported on 11-13-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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