ClinVar Miner

Submissions for variant NM_001374828.1(ARID1B):c.679_690del (p.Gly227_Ala230del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002755322 SCV003016697 likely benign not provided 2024-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545381 SCV004794938 uncertain significance ARID1B-related disorder 2024-02-01 no assertion criteria provided clinical testing The ARID1B c.430_441del12 variant is predicted to result in an in-frame deletion (p.Gly144_Ala147del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.18% of alleles in individuals of South Asian descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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