ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.1937A>C (p.His646Pro)

gnomAD frequency: 0.00001  dbSNP: rs757197196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177351 SCV000229200 uncertain significance not provided 2015-01-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177351 SCV002389240 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742314 SCV005347868 uncertain significance RAI1-related disorder 2024-08-19 no assertion criteria provided clinical testing The RAI1 c.1937A>C variant is predicted to result in the amino acid substitution p.His646Pro. To our knowledge, this variant has not been reported in the literature nor in the seven primary populations in gnomAD, 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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