ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.1381A>C (p.Thr461Pro) (rs1396171148)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Klinikum rechts der Isar RCV000656663 SCV000777891 pathogenic Dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver 2018-05-28 criteria provided, single submitter research
OMIM RCV000754849 SCV000882729 pathogenic Rajab interstitial lung disease with brain calcifications 2020-09-08 no assertion criteria provided literature only

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