Submissions for variant NM_022356.4(P3H1):c.978C>T (p.Thr326=)

gnomAD frequency: 0.01251  dbSNP: rs74070022

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001000260	SCV000646184	benign	Osteogenesis imperfecta type 8	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000610741	SCV000714516	benign	not specified	2017-01-18	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000260	SCV001156843	benign	Osteogenesis imperfecta type 8	2022-09-16	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001096106	SCV001252295	uncertain significance	Osteogenesis Imperfecta, Recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279356	SCV002564967	benign	Osteogenesis imperfecta	2021-12-06	criteria provided, single submitter	clinical testing