ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.500C>T (p.Pro167Leu)

gnomAD frequency: 0.00025  dbSNP: rs78682369
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543864 SCV000655750 benign Luscan-Lumish syndrome 2023-08-02 criteria provided, single submitter clinical testing
GeneDx RCV001653924 SCV001862224 benign not provided 2020-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27282254)
Genome-Nilou Lab RCV000543864 SCV002554250 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530570 SCV004740748 likely benign SETD2-related disorder 2019-02-20 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).
CeGaT Center for Human Genetics Tuebingen RCV001653924 SCV004810986 likely benign not provided 2024-03-01 criteria provided, single submitter clinical testing SETD2: BP4, BS2

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