Submissions for variant NM_004517.4(ILK):c.619-6C>T

gnomAD frequency: 0.00048  dbSNP: rs149710421

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233448	SCV000288581	benign	Primary familial hypertrophic cardiomyopathy	2023-12-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001092690	SCV001249317	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ILK: BP4
GeneDx	RCV001092690	SCV001943009	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020814	SCV003706064	likely benign	not specified	2021-11-15	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001092690	SCV001978403	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001092690	SCV001980046	likely benign	not provided		no assertion criteria provided	clinical testing