ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter)

dbSNP: rs1944306056
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001337023 SCV001530580 pathogenic Coffin-Siris syndrome 6 2018-06-28 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Baylor Genetics RCV001533071 SCV001748891 pathogenic ARID2-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing

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