Submissions for variant NM_213599.3(ANO5):c.2256G>A (p.Thr752=)

gnomAD frequency: 0.00013  dbSNP: rs144048656

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000380772	SCV000338618	benign	not specified	2016-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000873224	SCV000612357	benign	not provided	2018-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001079931	SCV001015179	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2023-12-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103647	SCV001260439	uncertain significance	ANO5-Related Muscle Diseases	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx	RCV000873224	SCV001830631	likely benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259770	SCV002539228	likely benign	Gnathodiaphyseal dysplasia	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259772	SCV002539230	benign	Miyoshi muscular dystrophy 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259771	SCV002539231	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-12-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000873224	SCV004564735	benign	not provided	2023-02-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000380772	SCV001977679	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000873224	SCV001978695	likely benign	not provided		no assertion criteria provided	clinical testing