ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.531C>T (p.Ser177=)

gnomAD frequency: 0.00012  dbSNP: rs376694698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697541 SCV000718947 likely benign not provided 2020-11-10 criteria provided, single submitter clinical testing
Invitae RCV001451541 SCV001655172 likely benign Neuronal ceroid lipofuscinosis 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350471 SCV002647257 likely benign Inborn genetic diseases 2019-12-05 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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