Submissions for variant NM_152393.4(KLHL40):c.1849T>C (p.Cys617Arg)

gnomAD frequency: 0.81037  dbSNP: rs123509

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220535	SCV000269200	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Cys617Arg in exon 6 of KLHL40: This variant is not expected to have clinical sig nificance because it has been identified in 24.6% (2113/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs123509).
PreventionGenetics, part of Exact Sciences	RCV000220535	SCV000316169	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000220535	SCV000513418	benign	not specified	2016-01-05	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	RCV001520456	SCV001729553	benign	Nemaline myopathy 8	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520456	SCV001981135	benign	Nemaline myopathy 8	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004708107	SCV005241070	benign	not provided		criteria provided, single submitter	not provided