ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.4095C>T (p.Phe1365=)

gnomAD frequency: 0.00004  dbSNP: rs750696838
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001497529 SCV001702261 likely benign not provided 2023-12-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001497529 SCV004160917 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing CPLANE1: BP4, BP7

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