ClinVar Miner

Submissions for variant NM_002292.4(LAMB2):c.252C>T (p.Asp84=)

gnomAD frequency: 0.00001  dbSNP: rs750432118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001400715 SCV001602522 likely benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2023-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001400715 SCV002810793 likely benign Pierson syndrome; LAMB2-related infantile-onset nephrotic syndrome 2021-12-14 criteria provided, single submitter clinical testing

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