ClinVar Miner

Submissions for variant NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)

gnomAD frequency: 0.00275  dbSNP: rs34255532
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249222 SCV000316800 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000860875 SCV001001049 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV003323277 SCV001137044 benign Colorectal cancer 2023-08-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000860875 SCV002049207 benign not provided 2021-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000860875 SCV004158181 benign not provided 2023-08-01 criteria provided, single submitter clinical testing FLT4: BP4, BS1, BS2
OMIM RCV000017652 SCV000037929 pathogenic Capillary infantile hemangioma 2002-03-01 no assertion criteria provided literature only
Clinical Genetics, Academic Medical Center RCV000249222 SCV001918933 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000249222 SCV001962832 benign not specified no assertion criteria provided clinical testing

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