Submissions for variant NM_002382.5(MAX):c.414G>A (p.Ser138=)

gnomAD frequency: 0.00001  dbSNP: rs559090673

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460075	SCV000541544	likely benign	Hereditary pheochromocytoma-paraganglioma	2024-01-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572815	SCV000673599	likely benign	Hereditary cancer-predisposing syndrome	2016-08-22	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Sema4, Sema4	RCV000572815	SCV002535913	likely benign	Hereditary cancer-predisposing syndrome	2021-04-21	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003401446	SCV004136189	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	MAX: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003401446	SCV004220010	likely benign	not provided	2023-07-10	criteria provided, single submitter	clinical testing