ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.220G>A (p.Glu74Lys)

gnomAD frequency: 0.00342  dbSNP: rs137852607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000010133 SCV001104609 benign Chitotriosidase deficiency 2019-08-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000010133 SCV001254142 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.
OMIM RCV000010133 SCV000030354 affects Chitotriosidase deficiency 2007-09-01 no assertion criteria provided literature only

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