ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.2395C>T (p.Arg799Cys)

gnomAD frequency: 0.00039  dbSNP: rs148053048
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 RCV000921690 SCV001067101 likely benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000921690 SCV001715472 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing

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