ClinVar Miner

Submissions for variant NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)

gnomAD frequency: 0.00226  dbSNP: rs267607083
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430409 SCV000514728 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000895009 SCV001039026 benign not provided 2024-01-26 criteria provided, single submitter clinical testing
Mendelics RCV000001140 SCV001137621 likely benign Vesicoureteral reflux 3 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000895009 SCV001155425 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing SOX17: BS2
PreventionGenetics, part of Exact Sciences RCV003924848 SCV004740312 benign SOX17-related condition 2019-06-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
OMIM RCV000001140 SCV000021290 uncertain significance Vesicoureteral reflux 3 2010-12-01 no assertion criteria provided literature only

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