ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.5321G>A (p.Arg1774Gln)

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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 RCV003841817 SCV004647843 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004741736 SCV005343980 uncertain significance RAI1-related disorder 2024-08-05 no assertion criteria provided clinical testing The RAI1 c.5321G>A variant is predicted to result in the amino acid substitution p.Arg1774Gln. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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