ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.561C>T (p.Asp187=)

gnomAD frequency: 0.00001  dbSNP: rs776807695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001089122 SCV000555925 likely benign Neuronal ceroid lipofuscinosis 2022-11-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313191 SCV000847425 likely benign Inborn genetic diseases 2016-07-28 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.
GeneDx RCV000840140 SCV000982057 likely benign not provided 2019-06-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489098 SCV002804349 likely benign Ceroid lipofuscinosis, neuronal, 4 (Kufs type) 2021-07-26 criteria provided, single submitter clinical testing

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