Submissions for variant NM_001166114.2(PNPLA6):c.2635-19A>C

gnomAD frequency: 0.35604  dbSNP: rs539887

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000424707	SCV000519581	benign	not specified	2016-01-22	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	RCV001520667	SCV001729831	benign	Hereditary spastic paraplegia 39	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789347	SCV002031555	benign	Laurence-Moon syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789345	SCV002031556	benign	Ataxia-hypogonadism-choroidal dystrophy syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001789346	SCV002031557	benign	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	2021-10-25	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001520667	SCV002031558	benign	Hereditary spastic paraplegia 39	2021-10-25	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004718637	SCV005313131	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000424707	SCV001743000	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000424707	SCV001956233	benign	not specified		no assertion criteria provided	clinical testing