ClinVar Miner

Submissions for variant NM_003465.3(CHIT1):c.258-6T>C

gnomAD frequency: 0.00223  dbSNP: rs184235051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002060835 SCV002399141 benign Chitotriosidase deficiency 2024-11-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675726 SCV005288739 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675726 SCV000801440 likely benign not provided 2017-05-16 no assertion criteria provided clinical testing

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