ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs)

dbSNP: rs1579740974
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808121 SCV002058607 likely pathogenic Orofaciodigital syndrome type 6 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Sheng Clinic, Gansu Aier Optometry Hospital RCV004577555 SCV005061709 likely pathogenic Joubert syndrome 17 2024-06-20 criteria provided, single submitter clinical testing

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