ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.1934T>A (p.Ile645Asn)

gnomAD frequency: 0.00001  dbSNP: rs1057522610
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422212 SCV000528606 uncertain significance not provided 2019-08-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000422212 SCV003509704 benign not provided 2022-07-13 criteria provided, single submitter clinical testing

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