ClinVar Miner

Submissions for variant NM_177438.2(DICER1):c.59C>T (p.Ala20Val) (rs147660793)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203871 SCV000262365 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000203871 SCV000389772 benign DICER1-related pleuropulmonary blastoma cancer predisposition syndrome 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.
Ambry Genetics RCV000493114 SCV000581547 likely benign Hereditary cancer-predisposing syndrome 2019-03-04 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
ITMI RCV000120633 SCV000084794 not provided not specified 2013-09-19 no assertion provided reference population

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