ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.1325C>T (p.Ala442Val)

dbSNP: rs1065761
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001030826 SCV000651334 benign Chitotriosidase deficiency 2019-11-18 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001030826 SCV001258022 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Mayo Clinic Laboratories, Mayo Clinic RCV000675716 SCV000801430 uncertain significance not provided 2015-12-16 no assertion criteria provided clinical testing

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