Submissions for variant NM_001348800.3(ZBTB20):c.1250C>G (p.Ala417Gly)

gnomAD frequency: 0.00277  dbSNP: rs149352178

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000898409	SCV001042616	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000898409	SCV002563785	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ZBTB20: PP2, BP4, BS1, BS2
Ambry Genetics	RCV002540167	SCV003678810	likely benign	Inborn genetic diseases	2022-01-26	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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000898409	SCV001799777	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000898409	SCV001976101	likely benign	not provided		no assertion criteria provided	clinical testing