ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.613G>A (p.Gly205Ser)

gnomAD frequency: 0.00292  dbSNP: rs145552478
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501711 SCV000593977 likely benign not specified 2021-03-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765317 SCV000896573 uncertain significance Meier-Gorlin syndrome 4 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000974644 SCV001122478 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000974644 SCV002498197 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing CDT1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003962371 SCV004786188 likely benign CDT1-related disorder 2023-10-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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