ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.542C>T (p.Ala181Val) (rs17232246)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ITMI RCV000120960 SCV000085128 not provided not specified 2013-09-19 no assertion provided reference population
Illumina Clinical Services Laboratory,Illumina RCV000317320 SCV000399884 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000317320 SCV000558858 benign Fanconi anemia 2017-08-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000120960 SCV000302505 benign not specified criteria provided, single submitter clinical testing

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