ClinVar Miner

Submissions for variant NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn)

gnomAD frequency: 0.00027  dbSNP: rs149517154
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001795834 SCV002037111 uncertain significance Aortic valve disease 3 no assertion criteria provided clinical testing

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