ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.177T>C (p.Phe59=) (rs397517871)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041239 SCV000064930 likely benign not specified 2013-01-15 criteria provided, single submitter clinical testing Phe59Phe in Exon 02 of SPRED1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and it is not located within the splice consensus sequence.
Invitae RCV000548315 SCV000645817 likely benign Legius syndrome 2019-12-31 criteria provided, single submitter clinical testing

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