Submissions for variant NM_004924.6(ACTN4):c.1770C>T (p.Ile590=)

gnomAD frequency: 0.00240  dbSNP: rs140707871

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000247950	SCV000310721	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000247950	SCV000708726	benign	not specified	2017-06-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000947940	SCV001094133	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253321	SCV002524555	benign	Focal segmental glomerulosclerosis 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002294154	SCV002587396	benign	Focal segmental glomerulosclerosis	2020-01-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002253321	SCV002801963	benign	Focal segmental glomerulosclerosis 1	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000947940	SCV005310927	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000247950	SCV003839238	benign	not specified	2022-12-19	no assertion criteria provided	clinical testing