ClinVar Miner

Submissions for variant NM_001384732.1(CPLANE1):c.8633-3del

dbSNP: rs34646696
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178557 SCV000230661 benign not specified 2015-11-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000351582 SCV000457348 likely benign Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001522077 SCV000728852 benign not provided 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522077 SCV001731546 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000178557 SCV001742060 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001522077 SCV001799023 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000178557 SCV001967977 benign not specified no assertion criteria provided clinical testing

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