ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1913C>T (p.Pro638Leu)

gnomAD frequency: 0.00146  dbSNP: rs572690908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001588667 SCV001824339 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing
Invitae RCV001588667 SCV002464105 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276837 SCV002565292 likely benign Ehlers-Danlos syndrome 2022-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002414286 SCV002723305 benign Cardiovascular phenotype 2021-03-25 criteria provided, single submitter clinical testing This alteration is classified as 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.

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