Submissions for variant NM_005022.4(PFN1):c.334C>T (p.Leu112=)

gnomAD frequency: 0.04611  dbSNP: rs13204

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250149	SCV000310779	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001515941	SCV001724128	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001515941	SCV001911322	benign	not provided	2018-08-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001788126	SCV002029603	benign	Amyotrophic lateral sclerosis type 18	2021-09-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001515941	SCV005254741	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000250149	SCV001807826	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000250149	SCV001919571	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001515941	SCV001963625	likely benign	not provided		no assertion criteria provided	clinical testing