Submissions for variant NM_005359.6(SMAD4):c.1447+9G>A

dbSNP: rs878854766

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232702	SCV000288870	likely benign	Juvenile polyposis syndrome	2024-01-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000423942	SCV000522987	likely benign	not specified	2016-01-04	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.
Color Diagnostics, LLC DBA Color Health	RCV001184079	SCV001349971	likely benign	Hereditary cancer-predisposing syndrome	2018-10-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284064	SCV001469648	uncertain significance	not provided	2020-01-20	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001284064	SCV002048536	likely benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000423942	SCV003928216	uncertain significance	not specified	2023-04-25	criteria provided, single submitter	clinical testing