ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg)

gnomAD frequency: 0.00021  dbSNP: rs554327738
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229838 SCV000291525 likely benign Legius syndrome 2023-10-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444928 SCV002682972 likely benign Cardiovascular phenotype 2021-05-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000229838 SCV004015554 likely benign Legius syndrome 2023-07-07 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001261037 SCV001438438 uncertain significance Neurofibromatosis-Noonan syndrome no assertion criteria provided clinical testing

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