ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.219T>C (p.Gly73=) (rs1127894)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000253775 SCV000309832 benign not specified criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000625318 SCV000744904 benign Ceroid lipofuscinosis, neuronal, 13 2015-09-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675407 SCV000841687 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715157 SCV000845985 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000675407 SCV000978417 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.
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam RCV000625318 SCV000745745 benign Ceroid lipofuscinosis, neuronal, 13 2016-04-22 no assertion criteria provided clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675407 SCV000801081 benign not provided 2015-10-22 no assertion criteria provided clinical testing

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