ClinVar Miner

Submissions for variant NM_006059.4(LAMC3):c.1185C>T (p.Cys395=)

gnomAD frequency: 0.00018  dbSNP: rs186634083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334495 SCV001527356 uncertain significance Occipital pachygyria and polymicrogyria 2018-01-29 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070185 SCV002358706 benign not provided 2025-01-14 criteria provided, single submitter clinical testing

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