Submissions for variant NM_003611.3(OFD1):c.1694T>C (p.Val565Ala)

gnomAD frequency: 0.00003  dbSNP: rs529916753

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462916	SCV000554666	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318535	SCV000850431	benign	Primary ciliary dyskinesia; Inborn genetic diseases	2017-01-25	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Fulgent Genetics, Fulgent Genetics	RCV002496795	SCV002807945	likely benign	Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10	2021-10-29	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701011	SCV001921572	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001703176	SCV001927174	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001703176	SCV001968104	likely benign	not provided		no assertion criteria provided	clinical testing