ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu)

gnomAD frequency: 0.00088  dbSNP: rs142723093
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542349 SCV000655738 likely benign Luscan-Lumish syndrome 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001572972 SCV001838951 benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000542349 SCV002553636 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001572972 SCV004154379 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing SETD2: BP4, BS1
PreventionGenetics, part of Exact Sciences RCV004530568 SCV004748738 likely benign SETD2-related disorder 2020-03-16 criteria provided, single submitter 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).
Ambry Genetics RCV004024333 SCV004947455 likely benign Inborn genetic diseases 2021-07-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001572972 SCV001798159 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001572972 SCV001973771 likely benign not provided no assertion criteria provided clinical testing

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