ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.1193C>T (p.Thr398Ile) (rs77500937)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254453 SCV000308793 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361449 SCV000445329 likely benign Nephrotic syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266745 SCV000445330 likely benign Pierson syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000541806 SCV000651525 benign Pierson syndrome; Nephrotic syndrome, type 5, with or without ocular abnormalities 2017-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712174 SCV000842604 benign not provided 2017-12-07 criteria provided, single submitter clinical testing

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