ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu)

gnomAD frequency: 0.68054  dbSNP: rs607230
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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 RCV001519198 SCV001728025 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519198 SCV001895386 benign not provided 2020-06-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730797 SCV001981210 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519198 SCV005248287 benign not provided criteria provided, single submitter not provided

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