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 RCV000351747 SCV000399830 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000857401 SCV000558864 benign not provided 2019-03-05 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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