ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn)

gnomAD frequency: 0.00021  dbSNP: rs764195998
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291822 SCV001480445 uncertain significance Luscan-Lumish syndrome 2020-05-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004531069 SCV004709624 likely benign SETD2-related disorder 2022-11-28 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).
Ambry Genetics RCV004035586 SCV004947456 likely benign Inborn genetic diseases 2023-10-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004692412 SCV005190281 uncertain significance not provided criteria provided, single submitter not provided

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