ClinVar Miner

Submissions for variant NM_003664.4(AP3B1):c.1857T>G (p.Leu619=) (rs115892142)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000787035 SCV000458297 likely benign Hermansky-Pudlak syndrome 2 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory,University of Chicago RCV000502927 SCV000593219 likely benign not specified 2016-05-09 criteria provided, single submitter clinical testing
Johns Hopkins Genomics,Johns Hopkins University RCV000787035 SCV000925949 likely benign Hermansky-Pudlak syndrome 2 2019-03-20 criteria provided, single submitter clinical testing
Invitae RCV000787035 SCV001121699 benign Hermansky-Pudlak syndrome 2 2019-12-31 criteria provided, single submitter clinical testing

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