ClinVar Miner

Submissions for variant NM_030665.4(RAI1):c.199T>C (p.Ser67Pro)

dbSNP: rs2143001498
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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 RCV001975537 SCV002251614 benign not provided 2022-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401990 SCV004104646 uncertain significance RAI1-related disorder 2022-09-28 criteria provided, single submitter clinical testing The RAI1 c.199T>C variant is predicted to result in the amino acid substitution p.Ser67Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), 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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