ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.17T>A (p.Val6Asp) (rs1800282)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000120910 SCV000603555 benign not specified 2017-01-06 criteria provided, single submitter clinical testing
ITMI RCV000120910 SCV000085078 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000312371 SCV000399895 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120910 SCV000302466 benign not specified criteria provided, single submitter clinical testing

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