ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.260G>C (p.Arg87Pro)

dbSNP: rs786203995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002492677 SCV002779094 uncertain significance Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome 2021-09-16 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000167561 SCV000218442 uncertain significance not provided 2015-01-30 no assertion criteria provided clinical testing

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