ClinVar Miner

Submissions for variant NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)

dbSNP: rs786204849
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000169762 SCV000221322 likely pathogenic Congenital ocular coloboma; Overgrowth; Macrocephaly; Large hands; Congenital anomaly of face; Learning disability 2014-11-24 no assertion criteria provided research
OMIM RCV000240847 SCV000299335 pathogenic Tall stature-intellectual disability-renal anomalies syndrome 2016-09-15 no assertion criteria provided literature only

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