ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=) (rs114485284)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527194 SCV000651567 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2017-09-22 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591753 SCV000707373 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing

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