Submissions for variant NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg)

gnomAD frequency: 0.00642  dbSNP: rs75867009

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000440766	SCV000511516	likely benign	not provided	2016-10-11	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001085236	SCV000756245	benign	Holocarboxylase synthetase deficiency	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001085236	SCV001296829	benign	Holocarboxylase synthetase 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000440766	SCV001830139	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001085236	SCV002083729	benign	Holocarboxylase synthetase deficiency	2019-12-13	no assertion criteria provided	clinical testing