ClinVar Miner

Submissions for variant NM_001378615.1(CC2D2A):c.2922+10dup

dbSNP: rs752271495
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730761 SCV000858524 likely benign not specified 2018-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001522614 SCV001732189 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000730761 SCV001924396 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727799 SCV001971459 likely benign not provided no assertion criteria provided clinical testing

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