Submissions for variant NM_001159699.2(FHL1):c.737-8C>T

gnomAD frequency: 0.53498  dbSNP: rs2076705

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000179824	SCV000232138	benign	not specified	2015-06-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000179824	SCV000306904	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000179824	SCV000519343	benign	not specified	2016-01-05	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000576703	SCV000677294	benign	X-linked myopathy with postural muscle atrophy; X-linked scapuloperoneal muscular dystrophy	2017-05-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000179824	SCV001623251	benign	not specified	2021-04-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514139	SCV001721894	benign	X-linked myopathy with postural muscle atrophy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701699	SCV001933449	benign	Uruguay Faciocardiomusculoskeletal syndrome	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514139	SCV001933450	benign	X-linked myopathy with postural muscle atrophy	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701631	SCV001933451	benign	Myopathy, reducing body, X-linked, early-onset, severe	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701630	SCV001933453	benign	Myopathy, reducing body, X-linked, childhood-onset	2021-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001701782	SCV001933454	benign	X-linked scapuloperoneal muscular dystrophy	2021-08-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004713402	SCV005279587	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000179824	SCV001741531	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000179824	SCV001919815	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000179824	SCV001927473	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000179824	SCV001970497	benign	not specified		no assertion criteria provided	clinical testing