Submissions for variant NM_006947.4(SRP72):c.1803G>A (p.Gly601=)

gnomAD frequency: 0.00131  dbSNP: rs143643243

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000321410	SCV000450177	benign	Autosomal dominant aplasia and myelodysplasia	2018-01-13	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000501088	SCV000597264	likely benign	not specified	2017-04-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001470594	SCV001674690	likely benign	not provided	2023-12-25	criteria provided, single submitter	clinical testing
GeneDx	RCV001470594	SCV001768273	likely benign	not provided	2020-10-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001470594	SCV004152708	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	SRP72: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001470594	SCV001926564	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001470594	SCV001970795	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003970009	SCV004785641	likely benign	SRP72-related disorder	2021-12-13	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).