ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1211+19C>T

gnomAD frequency: 0.00178  dbSNP: rs182600375
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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 RCV000251824 SCV000309351 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000251824 SCV000514629 likely benign not specified 2017-07-08 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001287461 SCV001474153 likely benign Shprintzen-Goldberg syndrome 2019-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001287461 SCV002425122 benign Shprintzen-Goldberg syndrome 2024-01-28 criteria provided, single submitter clinical testing

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