Submissions for variant NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)

gnomAD frequency: 0.00400  dbSNP: rs36027220

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000418794	SCV000511780	likely pathogenic	not provided	2017-02-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000418794	SCV000617862	likely benign	not provided	2020-03-06	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27127732, 24989451, 29431110, 30581635, 29758258, 29093021, 31664448, 31980526)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000418794	SCV001119618	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000418794	SCV001149006	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	EXOSC8: BS2
Baylor Genetics	RCV000144941	SCV001520007	uncertain significance	Pontocerebellar hypoplasia, type 1C	2019-01-24	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000144941	SCV004805570	uncertain significance	Pontocerebellar hypoplasia, type 1C	2024-03-25	criteria provided, single submitter	research
OMIM	RCV000144941	SCV000191958	pathogenic	Pontocerebellar hypoplasia, type 1C	2014-07-03	no assertion criteria provided	literature only
GenomeConnect, ClinGen	RCV000144941	SCV000840340	not provided	Pontocerebellar hypoplasia, type 1C		no assertion provided	phenotyping only	GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.