ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.2302G>C (p.Val768Leu)

gnomAD frequency: 0.00182  dbSNP: rs9311404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080516 SCV000655720 benign Luscan-Lumish syndrome 2024-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713182 SCV000843768 likely benign not provided 2018-02-21 criteria provided, single submitter clinical testing
GeneDx RCV000713182 SCV001988899 benign not provided 2021-07-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080516 SCV002553758 likely benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
ITMI RCV000122040 SCV000086251 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV004530038 SCV004737883 benign SETD2-related disorder 2019-02-22 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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