ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) (rs17233497)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000120937 SCV000302488 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094408 SCV000399830 benign Fanconi anemia, complementation group A 2018-03-06 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.
Invitae RCV000351747 SCV000558864 benign Fanconi anemia 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120937 SCV000603544 benign not specified 2016-10-06 criteria provided, single submitter clinical testing
ITMI RCV000120937 SCV000085105 not provided not specified 2013-09-19 no assertion provided reference population
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine RCV000488415 SCV000494044 uncertain significance Malignant tumor of prostate 2015-07-01 no assertion criteria provided research

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