Submissions for variant NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)

gnomAD frequency: 0.00003  dbSNP: rs755385158

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001696868	SCV000536150	likely benign	not provided	2018-11-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000950590	SCV001096914	likely benign	X-linked myopathy with postural muscle atrophy	2024-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002379394	SCV002674584	likely benign	Cardiovascular phenotype	2020-03-16	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.
Clinical Genetics, Academic Medical Center	RCV001696868	SCV001925318	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001696868	SCV001930816	uncertain significance	not provided		no assertion criteria provided	clinical testing