ClinVar Miner

Submissions for variant NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) (rs117221419)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490433 SCV000267551 uncertain significance Familial hemophagocytic lymphohistiocytosis 3 2016-03-18 criteria provided, single submitter reference population
PreventionGenetics,PreventionGenetics RCV000249783 SCV000317101 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000490433 SCV000406671 likely benign Familial hemophagocytic lymphohistiocytosis 3 2018-01-12 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.
Invitae RCV000490433 SCV001022489 benign Familial hemophagocytic lymphohistiocytosis 3 2020-11-27 criteria provided, single submitter clinical testing
Mendelics RCV000879455 SCV001135109 uncertain significance not provided 2019-05-28 criteria provided, single submitter clinical testing

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