ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.1406A>G (p.Asn469Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283744 SCV002572786 uncertain significance Developmental and epileptic encephalopathy, 64 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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