ClinVar Miner

Submissions for variant NM_001199198.3(TBC1D23):c.614_615del (p.Phe205fs)

dbSNP: rs2148861371
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783847 SCV002016847 likely pathogenic Pontocerebellar hypoplasia, type 11 2021-01-19 criteria provided, single submitter clinical testing

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