ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.557C>T (p.Pro186Leu)

gnomAD frequency: 0.00723  dbSNP: rs78759480
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079271 SCV000655753 benign Luscan-Lumish syndrome 2024-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000713187 SCV000843773 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
GeneDx RCV000713187 SCV001790399 likely benign not provided 2020-11-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33337535)
Genome-Nilou Lab RCV001079271 SCV002554239 benign Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713187 SCV004011469 benign not provided 2023-12-01 criteria provided, single submitter clinical testing SETD2: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV004542919 SCV004791629 benign SETD2-related disorder 2019-06-26 criteria provided, single submitter 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).
ITMI RCV000122036 SCV000086247 not provided not specified 2013-09-19 no assertion provided reference population

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