ClinVar Miner

Submissions for variant NM_005687.5(FARSB):c.784A>G (p.Lys262Glu)

dbSNP: rs1553554543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000656689 SCV000777890 pathogenic Vascular dilatation; Cerebral calcification; Interstitial pneumonitis; Cirrhosis of liver 2018-05-28 criteria provided, single submitter research

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