Submissions for variant NM_000049.4(ASPA):c.437_449del (p.Ser146fs)

dbSNP: rs2073669074

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences	RCV001090094	SCV001244257	pathogenic	Spongy degeneration of central nervous system	2019-12-05	criteria provided, single submitter	research
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV001090094	SCV001251885	pathogenic	Spongy degeneration of central nervous system	2020-05-03	criteria provided, single submitter	clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center	RCV001814271	SCV001755163	likely pathogenic	Abnormality of metabolism/homeostasis	2021-07-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001090094	SCV002033683	pathogenic	Spongy degeneration of central nervous system	2021-11-07	criteria provided, single submitter	clinical testing
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,	RCV001090094	SCV001244950	uncertain significance	Spongy degeneration of central nervous system		no assertion criteria provided	clinical testing