ClinVar Miner

Submissions for variant NM_006359.3(SLC9A6):c.1632-19_1632-3del (rs1569525894)

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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 RCV000735325 SCV000854479 likely pathogenic Autistic disorder of childhood onset; Pectus excavatum; Esotropia; Global developmental delay; Seizures; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Impaired use of nonverbal behaviors; Generalized hypotonia; Chorea; Postnatal microcephaly; Focal white matter lesions criteria provided, single submitter clinical testing

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