Submissions for variant NM_001367624.2(ZNF469):c.2322C>T (p.Pro774=)

gnomAD frequency: 0.00002  dbSNP: rs1477401083

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001579547	SCV001823624	likely benign	not provided	2020-06-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001579547	SCV004669412	likely benign	not provided	2024-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004039460	SCV005037538	likely benign	Cardiovascular phenotype	2023-09-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579547	SCV001807634	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001579547	SCV001969712	likely benign	not provided		no assertion criteria provided	clinical testing