Submissions for variant NM_001352514.2(HLCS):c.726C>T (p.Pro242=)

gnomAD frequency: 0.00587  dbSNP: rs2230182

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125361	SCV000168812	benign	not specified	2014-04-02	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536373	SCV000631925	benign	Holocarboxylase synthetase deficiency	2025-01-20	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000536373	SCV001304155	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics, Fulgent Genetics	RCV000536373	SCV002801860	likely benign	Holocarboxylase synthetase deficiency	2021-07-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717017	SCV005310109	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000536373	SCV001461056	benign	Holocarboxylase synthetase deficiency	2020-09-16	no assertion criteria provided	clinical testing