ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) (rs139287784)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000351349 SCV000396850 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000858083 SCV000547444 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000679857 SCV000807207 uncertain significance Fanconi anemia, complementation group P 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another variant in an 8-year-old female with limb reduction defects, mild malar hypoplasia, retrognathia, bluish slerae, mild language delay

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