Submissions for variant NM_031418.4(ANO3):c.164C>T (p.Ser55Phe)

gnomAD frequency: 0.00470  dbSNP: rs61746297

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460145	SCV000554663	benign	Dystonic disorder	2025-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001653834	SCV001866582	benign	not provided	2019-07-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259955	SCV002539009	benign	Dystonia 24	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001653834	SCV002544550	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	ANO3: BP4, BS2
Ambry Genetics	RCV004022917	SCV004906454	uncertain significance	Inborn genetic diseases	2022-03-28	criteria provided, single submitter	clinical testing	The c.164C>T (p.S55F) alteration is located in exon 2 (coding exon 2) of the ANO3 gene. This alteration results from a C to T substitution at nucleotide position 164, causing the serine (S) at amino acid position 55 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV001653834	SCV005317858	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529928	SCV001744266	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529928	SCV001798171	benign	not specified		no assertion criteria provided	clinical testing