Submissions for variant NM_001916.5(CYC1):c.960A>C (p.Ala320=)

gnomAD frequency: 0.00671  dbSNP: rs35387134

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000440956	SCV000520630	benign	not specified	2016-02-16	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	RCV000676780	SCV001119435	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000676780	SCV002545652	benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	CYC1: BP4, BP7, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000676780	SCV005269759	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676780	SCV000802582	likely benign	not provided	2016-03-09	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003912667	SCV004729370	benign	CYC1-related disorder	2019-03-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).