Submissions for variant NM_014324.6(AMACR):c.-22C>G

gnomAD frequency: 0.00123  dbSNP: rs35448266

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000434500	SCV000525965	likely benign	not specified	2018-02-26	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	RCV001151195	SCV001312305	uncertain significance	Alpha-methylacyl-CoA racemase deficiency	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.
CeGaT Center for Human Genetics Tuebingen	RCV000676072	SCV004160824	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	AMACR: BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676072	SCV000801807	likely benign	not provided	2017-08-17	no assertion criteria provided	clinical testing