Submissions for variant NM_001377.3(DYNC2H1):c.4719A>G (p.Gln1573=)

gnomAD frequency: 0.00021  dbSNP: rs201016942

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000528454	SCV000630951	benign	Jeune thoracic dystrophy	2024-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104021	SCV001260847	likely benign	Asphyxiating thoracic dystrophy 3	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.
CeGaT Center for Human Genetics Tuebingen	RCV003392370	SCV004131353	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	DYNC2H1: BP4, BP7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001104021	SCV004563869	likely benign	Asphyxiating thoracic dystrophy 3	2023-09-05	criteria provided, single submitter	clinical testing