ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.746C>T (p.Pro249Leu)

gnomAD frequency: 0.00001  dbSNP: rs745547797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001979055 SCV002219666 benign not provided 2023-04-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001979055 SCV004164490 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing

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