Submissions for variant NM_004268.5(MED17):c.1092G>A (p.Pro364=)

gnomAD frequency: 0.11178  dbSNP: rs34057693

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000603814	SCV000745565	benign	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	2017-06-28	criteria provided, single submitter	clinical testing
Invitae	RCV001516161	SCV001724393	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000603814	SCV001754904	benign	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001516161	SCV001863863	benign	not provided	2018-07-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117605	SCV000151835	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603814	SCV000733117	benign	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000603814	SCV002088558	benign	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	2019-11-21	no assertion criteria provided	clinical testing