ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) (rs151251039)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000382224 SCV000445335 uncertain significance Pierson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000287600 SCV000445336 uncertain significance Nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000529365 SCV000651573 likely benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2017-04-17 criteria provided, single submitter clinical testing

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