Submissions for variant NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)

gnomAD frequency: 0.00048  dbSNP: rs192401229

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194579	SCV000249036	benign	not specified	2018-07-24	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000310610	SCV000450171	benign	Autosomal dominant aplasia and myelodysplasia	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 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	RCV000908698	SCV001053475	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
GeneDx	RCV000908698	SCV001794156	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Breakthrough Genomics, Breakthrough Genomics	RCV000908698	SCV005259596	likely benign	not provided		criteria provided, single submitter	not provided