ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.945C>T (p.Leu315=) (rs146804895)

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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 RCV000150851 SCV000198405 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu315Leu in exon 6 of JUP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (2/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146804895).
Invitae RCV000461434 SCV000560963 likely benign not provided 2018-06-01 criteria provided, single submitter clinical testing

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