ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg)

gnomAD frequency: 0.00010  dbSNP: rs368465960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341491 SCV001535369 likely benign Luscan-Lumish syndrome 2022-09-01 criteria provided, single submitter clinical testing
New York Genome Center RCV001341491 SCV002097640 uncertain significance Luscan-Lumish syndrome 2020-06-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001341491 SCV002553869 uncertain significance Luscan-Lumish syndrome 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV003225179 SCV003921498 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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