ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.4815T>C (p.Asn1605=)

gnomAD frequency: 0.00018  dbSNP: rs370146822
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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) RCV000732444 SCV000860404 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001462082 SCV001665993 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-12-15 criteria provided, single submitter clinical testing

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