Submissions for variant NM_015214.3(DDHD2):c.227G>A (p.Gly76Asp)

gnomAD frequency: 0.00358  dbSNP: rs150361106

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000870709	SCV001012241	benign	Hereditary spastic paraplegia 54	2019-12-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847083	SCV002104613	likely benign	Hereditary spastic paraplegia	2021-10-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002539090	SCV003752607	likely benign	Inborn genetic diseases	2021-07-09	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003438521	SCV004164627	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	DDHD2: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003438521	SCV005223397	likely benign	not provided		criteria provided, single submitter	not provided