Submissions for variant NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=)

gnomAD frequency: 0.00284  dbSNP: rs201198197

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002066232	SCV002443905	benign	46,XY sex reversal 6	2025-01-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003432946	SCV004162850	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	MAP3K1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003432946	SCV005301130	benign	not provided		criteria provided, single submitter	not provided
Ambry Genetics	RCV004986708	SCV005616875	likely benign	Inborn genetic diseases	2024-11-14	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.
Genetic Services Laboratory, University of Chicago	RCV003151228	SCV003839691	likely benign	not specified	2022-09-01	no assertion criteria provided	clinical testing