ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.828-19A>C

gnomAD frequency: 0.00494  dbSNP: rs200047861
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124621 SCV000168054 benign not specified 2013-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
PreventionGenetics, part of Exact Sciences RCV000124621 SCV000308528 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055516 SCV002403231 benign Neuronal ceroid lipofuscinosis 2025-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498595 SCV002812018 likely benign Neuronal ceroid lipofuscinosis 10 2021-10-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675952 SCV005322028 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675952 SCV000801681 likely benign not provided 2017-04-25 no assertion criteria provided clinical testing

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