ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.1060G>A (p.Gly354Arg)

gnomAD frequency: 0.02564  dbSNP: rs9943208
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001030825 SCV000651332 benign Chitotriosidase deficiency 2019-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001030825 SCV001254053 likely benign Chitotriosidase deficiency 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV000675721 SCV005261131 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675721 SCV000801435 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing

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