ClinVar Miner

Submissions for variant NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)

gnomAD frequency: 0.00207  dbSNP: rs141663679
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194987 SCV000246945 uncertain significance not specified 2015-06-02 criteria provided, single submitter clinical testing
Invitae RCV000954754 SCV001101410 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262500 SCV001440404 likely benign Meier-Gorlin syndrome 4 2019-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954754 SCV002498199 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517061 SCV003702394 uncertain significance Inborn genetic diseases 2022-04-08 criteria provided, single submitter clinical testing The c.1411C>G (p.P471A) alteration is located in exon 9 (coding exon 9) of the CDT1 gene. This alteration results from a C to G substitution at nucleotide position 1411, causing the proline (P) at amino acid position 471 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000954754 SCV001799117 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000954754 SCV001959947 likely benign not provided no assertion criteria provided clinical testing

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