ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.5003G>T (p.Gly1668Val) (rs1265349835)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles RCV000735363 SCV000854517 uncertain significance Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Dysautonomia; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormality of upper limb bone criteria provided, single submitter clinical testing

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