ClinVar Miner

Submissions for variant NM_152641.4(ARID2):c.1718C>T (p.Thr573Met)

gnomAD frequency: 0.00270  dbSNP: rs76994389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203019 SCV000258251 uncertain significance not specified 2015-03-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000971794 SCV001119461 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971794 SCV004130637 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing ARID2: BS1

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