Submissions for variant NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)

gnomAD frequency: 0.00428  dbSNP: rs141893504

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000950415	SCV001096721	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000950415	SCV004162418	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	SEMA3D: BS1, BS2
Center of Genomic medicine, Geneva, University Hospital of Geneva	RCV000627055	SCV000747763	uncertain significance	Hirschsprung disease	2017-11-20	flagged submission	clinical testing	This variant was identified in a patient with Hirschsprung disease and a positive familial history. The patient harbours also a variant in the RET gene, which is a risk factor for this disease.
Human Genomics Unit, Institute for molecular medicine Finland (FIMM)	RCV000627055	SCV000845749	likely pathogenic	Hirschsprung disease		flagged submission	research
PreventionGenetics, part of Exact Sciences	RCV003917995	SCV004729630	benign	SEMA3D-related disorder	2019-05-23	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).