Submissions for variant NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met)

gnomAD frequency: 0.00115  dbSNP: rs536725615

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000584880	SCV000582285	likely benign	not provided	2023-07-03	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV000584880	SCV000692877	likely benign	not provided	2021-06-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000765313	SCV000896568	uncertain significance	Brittle cornea syndrome 1	2018-10-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000584880	SCV002361131	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279268	SCV002565430	uncertain significance	Ehlers-Danlos syndrome	2022-06-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002376906	SCV002686212	likely benign	Cardiovascular phenotype	2019-05-02	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.