ClinVar Miner

Submissions for variant NM_003793.4(CTSF):c.1026C>T (p.Tyr342=)

gnomAD frequency: 0.00003  dbSNP: rs762134997
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314603 SCV000848403 likely benign Inborn genetic diseases 2016-12-03 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.
GeneDx RCV001823162 SCV002072753 likely benign not provided 2022-05-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV003581705 SCV004301116 likely benign Neuronal ceroid lipofuscinosis 13 2023-02-23 criteria provided, single submitter clinical testing

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