ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) (rs767956337)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000754846 SCV000786626 likely pathogenic Rajab interstitial lung disease with brain calcifications 2018-07-15 criteria provided, single submitter research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000754846 SCV000923684 uncertain significance Rajab interstitial lung disease with brain calcifications 2019-01-01 criteria provided, single submitter clinical testing
OMIM RCV000754846 SCV000882726 pathogenic Rajab interstitial lung disease with brain calcifications 2020-09-08 no assertion criteria provided literature only

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