Submissions for variant NM_017780.4(CHD7):c.3222C>T (p.Ser1074=)

gnomAD frequency: 0.00023  dbSNP: rs199675568

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000389371	SCV000474426	uncertain significance	CHARGE syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295140	SCV000474427	uncertain significance	Hypogonadism with anosmia	2016-06-14	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317861	SCV000850875	likely benign	Inborn genetic diseases	2017-04-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000389371	SCV001004234	benign	CHARGE syndrome	2024-01-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001567504	SCV001791203	likely benign	not provided	2022-04-25	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen	RCV001567504	SCV004155852	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	CHD7: BP4, BP7