Submissions for variant NM_005559.4(LAMA1):c.4737C>T (p.Asn1579=)

gnomAD frequency: 0.00058  dbSNP: rs201505782

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000927417	SCV001073001	likely benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505375	SCV002796235	likely benign	Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome	2022-01-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000927417	SCV004144796	likely benign	not provided	2023-08-01	criteria provided, single submitter	clinical testing	LAMA1: BP4, BP7
Clinical Genetics, Academic Medical Center	RCV000927417	SCV001978905	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000927417	SCV001980423	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004551873	SCV004781446	likely benign	LAMA1-related disorder	2019-09-05	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).