ClinVar Miner

Submissions for variant NM_004715.5(CTDP1):c.978G>A (p.Thr326=)

gnomAD frequency: 0.20817  dbSNP: rs599554
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001700171 SCV007318200 benign not specified 2016-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675937 SCV005312817 benign not provided criteria provided, single submitter not provided
Labcorp Genetics (formerly Invitae), Labcorp RCV001675937 SCV002403191 benign not provided 2026-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001675937 SCV001892771 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Dr. Peter K. Rogan Lab, Western University RCV005900070 SCV006913360 not provided Uterine carcinosarcoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900070 SCV006913359 not provided Uterine carcinosarcoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900070 SCV006913358 not provided Uterine carcinosarcoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900070 SCV006913357 not provided Uterine carcinosarcoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900070 SCV006913356 not provided Uterine carcinosarcoma no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900069 SCV006913355 not provided Malignant lymphoma, large B-cell, diffuse no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900069 SCV006913354 not provided Malignant lymphoma, large B-cell, diffuse no classification provided in vitro
Dr. Peter K. Rogan Lab, Western University RCV005900069 SCV006913352 not provided Malignant lymphoma, large B-cell, diffuse no classification provided in vitro
Clinical Genetics, Academic Medical Center RCV001700171 SCV001924720 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000613005 SCV000733806 benign Congenital cataracts-facial dysmorphism-neuropathy syndrome no assertion criteria provided clinical testing

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