Submissions for variant NM_003193.5(TBCE):c.101-5G>A

gnomAD frequency: 0.00440  dbSNP: rs113829976

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000899916	SCV001044207	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001099436	SCV001255891	likely benign	Hypoparathyroidism-retardation-dysmorphism syndrome	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000899916	SCV004126130	benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	TBCE: BP4, BS1, BS2
Clinical Genetics, Academic Medical Center	RCV001701353	SCV001923055	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000899916	SCV001928434	likely benign	not provided		no assertion criteria provided	clinical testing