Submissions for variant NM_002972.4(SBF1):c.5604T>C (p.Val1868=)

gnomAD frequency: 0.00332  dbSNP: rs141053122

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000971982	SCV001119666	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000971982	SCV001153723	likely benign	not provided	2024-12-01	criteria provided, single submitter	clinical testing	SBF1: BP4, BP7, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000441	SCV001157260	benign	Charcot-Marie-Tooth disease type 4B3	2023-10-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000971982	SCV001778168	likely benign	not provided	2021-02-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001000441	SCV002807186	likely benign	Charcot-Marie-Tooth disease type 4B3	2021-08-31	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000971982	SCV005207760	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001701273	SCV001921124	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701273	SCV001930906	benign	not specified		no assertion criteria provided	clinical testing