ClinVar Miner

Submissions for variant NM_139058.3(ARX):c.447G>C (p.Ala149=)

gnomAD frequency: 0.00069  dbSNP: rs745705522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353204 SCV000342479 uncertain significance not provided 2016-07-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089020 SCV000772019 likely benign Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000353204 SCV001939411 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002328787 SCV002636969 likely benign Inborn genetic diseases 2018-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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