Submissions for variant NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val)

gnomAD frequency: 0.00058  dbSNP: rs139781067

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194531	SCV000246724	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000527923	SCV000512207	benign	not provided	2020-08-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31959876)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081638	SCV000639989	benign	Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	2024-01-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000527923	SCV001150392	uncertain significance	not provided	2016-07-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002277451	SCV002565172	likely benign	Ehlers-Danlos syndrome	2020-08-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002372162	SCV002626104	benign	Inborn genetic diseases	2016-09-27	criteria provided, single submitter	clinical testing	This alteration is classified as 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.