Submissions for variant NM_007262.5(PARK7):c.234C>T (p.Gly78=)

gnomAD frequency: 0.03501  dbSNP: rs11548937

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000354945	SCV000359045	likely benign	Parkinson Disease, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000555344	SCV000641201	benign	Autosomal recessive early-onset Parkinson disease 7	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000712504	SCV000843009	benign	not provided	2018-06-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000712504	SCV001755835	benign	not provided	2018-09-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 12953260, 20981092)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529647	SCV001743449	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529647	SCV001808171	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529647	SCV001966081	benign	not specified		no assertion criteria provided	clinical testing