Submissions for variant NM_003611.3(OFD1):c.1654+8A>G

gnomAD frequency: 0.00184  dbSNP: rs200767363

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000378495	SCV000194315	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000378495	SCV000342677	benign	not specified	2016-06-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000469882	SCV000554667	benign	Familial aplasia of the vermis; Orofaciodigital syndrome I	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001668294	SCV001890552	benign	not provided	2021-04-02	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000378495	SCV001923044	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001668294	SCV001927406	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001668294	SCV001964381	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004532659	SCV004739956	likely benign	OFD1-related disorder	2019-05-20	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).