ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.2102G>C (p.Trp701Ser)

dbSNP: rs1811324175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328624 SCV001519781 uncertain significance Developmental and epileptic encephalopathy, 64 2019-08-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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