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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120937 SCV000603544 benign not specified 2016-10-06 criteria provided, single submitter clinical testing
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
ITMI RCV000120937 SCV000085105 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000351747 SCV000399830 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000351747 SCV000558864 benign Fanconi anemia 2017-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120937 SCV000302488 benign not specified criteria provided, single submitter clinical testing

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