ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.1598T>C (p.Val533Ala)

gnomAD frequency: 0.00009  dbSNP: rs777351655
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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) RCV000299384 SCV000336275 uncertain significance not provided 2018-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001205645 SCV001376914 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-02-16 criteria provided, single submitter clinical testing

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