ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2483G>A (p.Arg828Gln)

gnomAD frequency: 0.00008  dbSNP: rs375243763
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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) RCV000402581 SCV000340954 uncertain significance not provided 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001202071 SCV001373169 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334751 SCV001527680 uncertain significance COACH syndrome 1 2018-09-14 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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