ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2387T>G (p.Met796Arg)

gnomAD frequency: 0.00003  dbSNP: rs367560550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594189 SCV000707769 uncertain significance not provided 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001370617 SCV001567138 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000594189 SCV002013617 uncertain significance not provided 2021-01-12 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; Observed in homozygous state in a patient referred for genetic testing at GeneDx and not observed in homozygous state in controls

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