ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.4384C>G (p.Pro1462Ala)

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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 RCV002806663 SCV003195845 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003403922 SCV004112453 uncertain significance RAI1-related disorder 2024-09-26 no assertion criteria provided clinical testing The RAI1 c.4384C>G variant is predicted to result in the amino acid substitution p.Pro1462Ala. 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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