Submissions for variant NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe)

gnomAD frequency: 0.00428  dbSNP: rs147157740

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963453	SCV001110609	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000963453	SCV001889046	benign	not provided	2020-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001819052	SCV002069922	benign	not specified	2021-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000963453	SCV004164329	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	SAMD9: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000963453	SCV004564890	benign	not provided	2023-08-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000963453	SCV005268823	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004553450	SCV004744580	likely benign	SAMD9-related disorder	2019-11-19	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).