ClinVar Miner

Submissions for variant NM_025219.3(DNAJC5):c.144C>T (p.Pro48=) (rs113987077)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177347 SCV000229195 benign not specified 2014-08-04 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000177347 SCV000314602 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270799 SCV000435217 benign Neuronal Ceroid-Lipofuscinosis, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464005 SCV000555920 benign Neuronal ceroid lipofuscinosis 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715935 SCV000846767 benign Seizures 2016-02-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000675868 SCV001143763 benign not provided 2018-10-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001136835 SCV001296707 benign Neuronal ceroid lipofuscinosis 4B 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000675868 SCV000801593 benign not provided 2016-12-30 no assertion criteria provided clinical testing

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