ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.442+7G>A (rs373590238)

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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 RCV000154854 SCV000204536 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing 442+7G>A in intron 5 of TMEM43: This variant is not expected to have clinical si gnificance because it is not located within the splice consensus sequence. It ha s been identified in 0.1% (5/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS). 442+7G>A in intron 5 of TMEM43 (allele frequency = 0.1%, 5/3738) **
Invitae RCV000462135 SCV000557665 likely benign not provided 2018-11-06 criteria provided, single submitter clinical testing

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