Submissions for variant NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)

dbSNP: rs73274785

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246790	SCV000306376	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000246790	SCV000520664	benign	not specified	2016-08-02	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	RCV000676508	SCV001012207	benign	not provided	2024-01-26	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500877	SCV002806270	likely benign	Mitochondrial DNA deletion syndrome with progressive myopathy; Seckel syndrome 8	2021-10-08	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676508	SCV005318849	benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000676508	SCV000802292	likely benign	not provided	2016-02-29	no assertion criteria provided	clinical testing