Submissions for variant NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val)

gnomAD frequency: 0.00258  dbSNP: rs141497885

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193461	SCV000247830	uncertain significance	not specified	2015-02-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725925	SCV000340549	uncertain significance	not provided	2016-04-05	criteria provided, single submitter	clinical testing
Invitae	RCV000725925	SCV001117770	likely benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001334497	SCV001527358	uncertain significance	Occipital pachygyria and polymicrogyria	2018-02-12	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV000725925	SCV001792458	likely benign	not provided	2021-01-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927788	SCV004745814	likely benign	LAMC3-related condition	2020-01-09	criteria provided, single submitter	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).