ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5228C>T (p.Thr1743Met)

gnomAD frequency: 0.00004  dbSNP: rs528936858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000439350 SCV000511639 likely benign not provided 2016-09-20 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV003362780 SCV004057187 likely benign Inborn genetic diseases 2023-07-12 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000439350 SCV005825291 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing

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