ClinVar Miner

Submissions for variant NM_014159.7(SETD2):c.4262T>C (p.Leu1421Pro)

gnomAD frequency: 0.00006  dbSNP: rs587778677
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003352775 SCV004065051 likely benign Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
ITMI RCV000122052 SCV000086263 not provided not specified 2013-09-19 no assertion provided reference population

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