Submissions for variant NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=)

gnomAD frequency: 0.00012  dbSNP: rs141133453

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724397	SCV000231397	uncertain significance	not provided	2014-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000724397	SCV000715871	benign	not provided	2019-02-27	criteria provided, single submitter	clinical testing
Invitae	RCV001086358	SCV000771433	benign	Charcot-Marie-Tooth disease axonal type 2O	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314658	SCV000848792	likely benign	Inborn genetic diseases	2017-01-19	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.
Athena Diagnostics	RCV000724397	SCV001143802	benign	not provided	2018-11-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724397	SCV003917345	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DYNC1H1: BP4, BP7, BS1
Clinical Genetics, Academic Medical Center	RCV000724397	SCV001923230	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000724397	SCV001972053	likely benign	not provided		no assertion criteria provided	clinical testing