ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly)

gnomAD frequency: 0.00002  dbSNP: rs377066147
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541716 SCV000655764 benign Luscan-Lumish syndrome 2023-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001574013 SCV003845724 likely benign not provided 2023-03-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001574013 SCV001800693 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727762 SCV001973488 benign not specified no assertion criteria provided clinical testing

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