Submissions for variant NM_001352514.2(HLCS):c.2362G>A (p.Val788Met)

gnomAD frequency: 0.00392  dbSNP: rs150665851

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	RCV000430485	SCV000511678	likely benign	not provided	2017-01-09	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080783	SCV000631923	benign	Holocarboxylase synthetase deficiency	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001080783	SCV001304052	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.
CeGaT Center for Human Genetics Tuebingen	RCV000430485	SCV004153623	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	HLCS: BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000430485	SCV005206272	likely benign	not provided		criteria provided, single submitter	not provided