ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.1326G>A (p.Ala442=)

gnomAD frequency: 0.00011  dbSNP: rs186594769
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001101417 SCV001258021 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001101417 SCV002407957 benign Chitotriosidase deficiency 2024-01-15 criteria provided, single submitter clinical testing

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