ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.126C>T (p.Pro42=)

gnomAD frequency: 0.22868  dbSNP: rs1044522
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252699 SCV000309829 benign not specified criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000625319 SCV000744905 benign Neuronal ceroid lipofuscinosis 13 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675409 SCV000841684 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311380 SCV000845977 benign Inborn genetic diseases 2016-01-08 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
GeneDx RCV000675409 SCV000985853 benign not provided 2018-06-13 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.
Invitae RCV000625319 SCV001723678 benign Neuronal ceroid lipofuscinosis 13 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000625319 SCV000745746 benign Neuronal ceroid lipofuscinosis 13 2016-05-09 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675409 SCV000801083 likely benign not provided 2015-12-16 no assertion criteria provided clinical testing

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