Submissions for variant NM_006947.4(SRP72):c.1671A>G (p.Lys557=)

gnomAD frequency: 0.08059  dbSNP: rs34419325

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000304944	SCV000450174	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001509698	SCV001716541	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001509698	SCV001906773	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821067	SCV002064893	benign	not specified	2020-08-25	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000304944	SCV002506326	benign	Autosomal dominant aplasia and myelodysplasia	2023-08-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001509698	SCV005301951	benign	not provided		criteria provided, single submitter	not provided