ClinVar Miner

Submissions for variant NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) (rs61749654)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082129 SCV000114075 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082129 SCV000194213 likely benign not specified 2015-10-27 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353481 SCV000456521 likely benign Weaver syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263411 SCV000456522 likely benign Sotos syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000456663 SCV000558228 benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000082129 SCV000729345 benign not specified 2017-11-07 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.

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