ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.1092-18T>C

gnomAD frequency: 0.11131  dbSNP: rs11195200
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246208 SCV000311064 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000246208 SCV000728757 benign not specified 2017-04-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058190 SCV002493778 benign Cornelia de Lange syndrome 3 2025-02-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004718141 SCV005317179 benign not provided criteria provided, single submitter not provided

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