ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.5496+20A>G

gnomAD frequency: 0.82650  dbSNP: rs616722
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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 RCV001515514 SCV001723601 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001515514 SCV001844684 benign not provided 2019-06-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730766 SCV001981211 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001515514 SCV005248290 benign not provided criteria provided, single submitter not provided

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