ClinVar Miner

Submissions for variant NM_000107.3(DDB2):c.644T>C (p.Met215Thr)

gnomAD frequency: 0.00133  dbSNP: rs4647750
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000883949 SCV001027294 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259044 SCV002534365 likely benign Xeroderma pigmentosum 2020-11-26 criteria provided, single submitter curation

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