ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1359+10A>G

gnomAD frequency: 0.00011  dbSNP: rs373012628
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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) RCV000367403 SCV000338606 uncertain significance not provided 2016-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636971 SCV000758419 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-18 criteria provided, single submitter clinical testing

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