ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr)

gnomAD frequency: 0.29406  dbSNP: rs671871
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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 RCV001519197 SCV001728024 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519197 SCV001759219 benign not provided 2020-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730796 SCV001981209 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519197 SCV005248285 benign not provided criteria provided, single submitter not provided

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