Submissions for variant NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)

gnomAD frequency: 0.00329  dbSNP: rs148193087

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000323270	SCV000332391	likely benign	not specified	2015-07-07	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000323270	SCV000841538	benign	not specified	2019-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087588	SCV001107252	benign	Temtamy preaxial brachydactyly syndrome	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001564172	SCV001787293	likely benign	not provided	2020-03-05	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV001087588	SCV002800302	likely benign	Temtamy preaxial brachydactyly syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001564172	SCV005216299	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003939939	SCV004751273	likely benign	CHSY1-related disorder	2019-07-17	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).