ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter)

dbSNP: rs1554237850
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001291576 SCV001480112 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332344 SCV001524639 pathogenic Coffin-Siris syndrome 1 2019-09-02 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001533034 SCV001748853 pathogenic ARID1B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001332344 SCV002054297 pathogenic Coffin-Siris syndrome 1 2021-07-15 criteria provided, single submitter clinical testing

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