ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1522G>A (p.Ala508Thr)

gnomAD frequency: 0.00022  dbSNP: rs750005577
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996358 SCV001151040 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
Invitae RCV000996358 SCV001665579 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000996358 SCV001768422 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29228253)
Ambry Genetics RCV002391059 SCV002708182 benign Cardiovascular phenotype 2021-12-01 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003898014 SCV004708849 likely benign ZNF469-related condition 2022-04-04 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).

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