ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5117del (p.Pro1706fs)

dbSNP: rs2151746362
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MedGen Diagnostic Laboratory, MedGen Medical Centre RCV001729862 SCV001571236 pathogenic KBG syndrome 2021-04-14 criteria provided, single submitter case-control

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