ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2486+8A>G

gnomAD frequency: 0.00001  dbSNP: rs749186859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000297981 SCV000447861 uncertain significance Familial aplasia of the vermis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000371235 SCV000447862 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001457261 SCV001661060 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-08-18 criteria provided, single submitter clinical testing

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