ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.3673-1G>C

gnomAD frequency: 0.00001  dbSNP: rs886041688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000259747 SCV000330416 pathogenic not provided 2023-04-27 criteria provided, single submitter clinical testing Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002503976 SCV002813957 likely pathogenic Orofaciodigital syndrome type 6; Joubert syndrome 17 2022-04-13 criteria provided, single submitter clinical testing

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