ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.56T>C (p.Val19Ala)

dbSNP: rs1810887469
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328623 SCV001519780 uncertain significance Developmental and epileptic encephalopathy, 64 2020-04-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001328623 SCV005373987 uncertain significance Developmental and epileptic encephalopathy, 64 2024-09-22 criteria provided, single submitter clinical testing

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