Submissions for variant NM_006012.4(CLPP):c.801G>A (p.Ala267=)

gnomAD frequency: 0.00987  dbSNP: rs112620134

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213222	SCV000268886	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ala267Ala in exon 6 of CLPP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1.1% (92/8592) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs112620134).
GeneDx	RCV000676997	SCV000718131	benign	not provided	2018-05-18	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000676997	SCV001143622	benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing
Invitae	RCV000676997	SCV001731107	benign	not provided	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676997	SCV002498407	benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CLPP: BP4, BP7, BS1, BS2
Mayo Clinic Laboratories, Mayo Clinic	RCV000676997	SCV000802825	benign	not provided	2017-07-13	no assertion criteria provided	clinical testing