Submissions for variant NM_003172.4(SURF1):c.311_312insA (p.Leu105fs)

gnomAD frequency: 0.00036  dbSNP: rs764928653

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Center for Human Genetics Tuebingen	RCV000512891	SCV000609362	likely pathogenic	not provided	2017-11-01	criteria provided, single submitter	clinical testing
MGZ Medical Genetics Center	RCV002289700	SCV002579470	likely pathogenic	Charcot-Marie-Tooth disease type 4K	2021-08-31	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University Hospital Muenster	RCV003128406	SCV003804815	likely pathogenic	See cases	2023-01-30	criteria provided, single submitter	clinical testing	ACMG categories: PVS1,PM1
Baylor Genetics	RCV003147496	SCV003835002	pathogenic	Mitochondrial complex IV deficiency, nuclear type 1	2021-09-22	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000512891	SCV001744281	pathogenic	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000512891	SCV001797391	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000512891	SCV001918951	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000512891	SCV001966230	pathogenic	not provided		no assertion criteria provided	clinical testing