ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.108G>A (p.Gln36=)

gnomAD frequency: 0.00001  dbSNP: rs886044284
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327916 SCV000344250 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059272 SCV002467925 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-20 criteria provided, single submitter clinical testing

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