Submissions for variant NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp)

gnomAD frequency: 0.01644  dbSNP: rs75366116

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224552	SCV000281370	benign	not provided	2015-12-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000242659	SCV000317105	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085938	SCV000406668	likely benign	Familial hemophagocytic lymphohistiocytosis 3	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV001085938	SCV000638944	benign	Familial hemophagocytic lymphohistiocytosis 3	2024-01-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000242659	SCV002051052	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262834	SCV002543133	benign	Autoinflammatory syndrome	2022-02-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001085938	SCV002800451	likely benign	Familial hemophagocytic lymphohistiocytosis 3	2021-12-10	criteria provided, single submitter	clinical testing