ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.7213G>A (p.Asp2405Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002293612 SCV002586440 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002293612 SCV003243303 likely benign not provided 2024-10-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147759 SCV003835402 uncertain significance Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2022-09-10 criteria provided, single submitter clinical testing

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