ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7446A>G (p.Leu2482=)

gnomAD frequency: 0.00144  dbSNP: rs145257845
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893928 SCV001037891 benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495407 SCV002799223 likely benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000893928 SCV004144781 likely benign not provided 2024-10-01 criteria provided, single submitter clinical testing LAMA1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004551673 SCV004794093 likely benign LAMA1-related disorder 2019-10-22 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).

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