Submissions for variant NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe)

gnomAD frequency: 0.00020  dbSNP: rs201695275

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001705023	SCV000241687	likely benign	not provided	2020-12-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000645274	SCV000767016	benign	Intellectual disability, autosomal dominant 1	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317120	SCV000850266	likely benign	Inborn genetic diseases	2023-06-21	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.
CeGaT Center for Human Genetics Tuebingen	RCV001705023	SCV004154071	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	MBD5: BP4
Breakthrough Genomics, Breakthrough Genomics	RCV001705023	SCV005255797	likely benign	not provided		criteria provided, single submitter	not provided