ClinVar Miner

Submissions for variant NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)

dbSNP: rs1593351503
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
Molecular Diagnosis Center for Deafness RCV000991326 SCV001132591 pathogenic Noonan syndrome 1 criteria provided, single submitter case-control

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