ClinVar Miner

Submissions for variant NM_001909.5(CTSD):c.267C>G (p.Pro89=)

gnomAD frequency: 0.00006  dbSNP: rs139154882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724386 SCV000228973 uncertain significance not provided 2015-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000724386 SCV000525836 likely benign not provided 2019-09-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001448695 SCV001651794 likely benign Neuronal ceroid lipofuscinosis 2024-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002433772 SCV002744789 likely benign Inborn genetic diseases 2019-11-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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