Submissions for variant NM_014846.4(WASHC5):c.639G>C (p.Gln213His)

gnomAD frequency: 0.00011  dbSNP: rs141234822

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202950	SCV000258076	uncertain significance	not specified	2015-06-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000767086	SCV000534975	likely benign	not provided	2022-10-11	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Illumina Laboratory Services, Illumina	RCV001163829	SCV001325910	likely benign	Hereditary spastic paraplegia 8	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001490442	SCV001695004	likely benign	Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome	2023-05-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847913	SCV002104814	uncertain significance	Hereditary spastic paraplegia	2021-08-30	criteria provided, single submitter	clinical testing