Submissions for variant NM_022356.4(P3H1):c.693G>A (p.Ala231=)

gnomAD frequency: 0.00027  dbSNP: rs149113630

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000532202	SCV000646182	likely benign	Osteogenesis imperfecta type 8	2025-01-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000605499	SCV000715341	likely 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.
Illumina Laboratory Services, Illumina	RCV001096110	SCV001252300	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.