ClinVar Miner

Submissions for variant NM_001172509.2(SATB2):c.2121C>T (p.Ser707=)

gnomAD frequency: 0.00067  dbSNP: rs141424911
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524790 SCV000646943 benign Chromosome 2q32-q33 deletion syndrome 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315001 SCV000848984 likely benign Inborn genetic diseases 2017-02-08 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.
GeneDx RCV001675926 SCV001892799 benign not provided 2019-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001675926 SCV004148379 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing SATB2: BP4, BP7, BS1

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