ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.939G>A (p.Gly313=)

gnomAD frequency: 0.00758  dbSNP: rs114727660
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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 RCV000245298 SCV000309836 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002313983 SCV000848848 likely benign Inborn genetic diseases 2016-04-15 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.
Invitae RCV001088330 SCV001109264 benign Neuronal ceroid lipofuscinosis 13 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000675402 SCV001143655 benign not provided 2018-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000675402 SCV001861247 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001088330 SCV002796282 likely benign Neuronal ceroid lipofuscinosis 13 2022-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001088330 SCV004564155 benign Neuronal ceroid lipofuscinosis 13 2023-09-18 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675402 SCV000801075 likely benign not provided 2018-02-08 no assertion criteria provided clinical testing

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