ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.755T>C (p.Phe252Ser) (rs1466642025)

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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 RCV000656728 SCV000778803 pathogenic Dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver no assertion criteria provided research
OMIM RCV000754850 SCV000882730 pathogenic Rajab interstitial lung disease with brain calcifications 2020-09-08 no assertion criteria provided literature only

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