ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.3261dupC (p.Thr1088Hisfs) (rs1057518689)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000414993 SCV000328793 pathogenic Holoprosencephaly 9 2016-05-01 no assertion criteria provided clinical testing Our laboratory reported two molecular diagnoses in GLI2 (NM_005270.4:c.3261dupC) and BLM (NM_000057.2:c.1544del; NM_000057.2:c.4140T>G; in trans) in an individual with failure to thrive, motor and speech delay, intellectual disability, abnormal movements, dysmorphic features, microcephaly, structural brain abnormalities, eye anomalies, congenital heart disease, kidney abnormalities, skeletal abnormalities, limb malformation, delayed bone age, genital anomalies, hypopituitarism, behavior problems, and holoprosencephaly.

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