Submissions for variant NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)

gnomAD frequency: 0.00804  dbSNP: rs61910685

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000176130	SCV000227735	benign	not specified	2015-01-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528937	SCV000317291	likely benign	ANO5-related disorder	2021-01-12	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
GeneDx	RCV000176130	SCV000512055	benign	not specified	2016-02-26	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	RCV000176130	SCV000612359	benign	not specified	2021-04-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540731	SCV000645908	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	2024-01-31	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000176130	SCV000864304	likely benign	not specified	2017-05-09	criteria provided, single submitter	clinical testing	BP4,BP6; This alteration is predicted to be tolerated by multiple functional prediction tools, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Mendelics	RCV000988507	SCV001138254	benign	Gnathodiaphyseal dysplasia	2019-05-28	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103650	SCV001260442	likely benign	ANO5-Related Muscle Diseases	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000176130	SCV002071451	benign	not specified	2017-11-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000988507	SCV002539235	benign	Gnathodiaphyseal dysplasia	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259707	SCV002539236	benign	Miyoshi muscular dystrophy 3	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259706	SCV002539237	benign	Autosomal recessive limb-girdle muscular dystrophy type 2L	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002262771	SCV002544548	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ANO5: BP4, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002505257	SCV002806100	benign	Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3	2021-10-13	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV002262771	SCV003799215	benign	not provided	2023-10-13	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV002262771	SCV005223693	likely benign	not provided		criteria provided, single submitter	not provided