Submissions for variant NM_002291.3(LAMB1):c.5225-7C>T

gnomAD frequency: 0.64814  dbSNP: rs3213673

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000325321	SCV000484286	benign	Pyruvate dehydrogenase complex deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000363636	SCV000484287	benign	Leigh syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000276408	SCV000484288	benign	Maple syrup urine disease	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000423681	SCV000519492	benign	not specified	2016-01-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511889	SCV001719209	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730675	SCV001981270	benign	Cobblestone lissencephaly without muscular or ocular involvement	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001511889	SCV005271187	benign	not provided		criteria provided, single submitter	not provided