ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.1202G>A (p.Arg401Gln) (rs1553553086)

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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 RCV000656702 SCV000778541 pathogenic Dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver 2018-06-21 criteria provided, single submitter research
OMIM RCV000754848 SCV000882728 pathogenic Rajab interstitial lung disease with brain calcifications 2020-09-08 no assertion criteria provided literature only

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