Submissions for variant NM_144687.4(NLRP12):c.1206C>G (p.Phe402Leu)

gnomAD frequency: 0.05162  dbSNP: rs34971363

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252320	SCV000316031	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000359423	SCV000414549	benign	Familial cold autoinflammatory syndrome	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001001698	SCV001159270	benign	Familial cold autoinflammatory syndrome 2	2023-11-28	criteria provided, single submitter	clinical testing
Invitae	RCV001001698	SCV001720823	benign	Familial cold autoinflammatory syndrome 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262905	SCV002542440	benign	Autoinflammatory syndrome	2022-01-14	criteria provided, single submitter	clinical testing
OMIM	RCV000627082	SCV000747892	risk factor	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO	2018-05-15	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV001824715	SCV002074714	not provided	not provided		no assertion provided	phenotyping only	Variant interpreted as Benign and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. This variant was reported in an individual referred for clinical diagnostic genetic testing.