ClinVar Miner

Submissions for variant NM_032122.4(DTNBP1):c.667+2C>T (rs61739410)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000398519 SCV000461634 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000219066 SCV000269042 benign not specified 2015-08-12 criteria provided, single submitter clinical testing c.667+2C>T in intron 8 of DTNBP1: This variant is not expected to have clinical significance because it has been identified in 8.9% (920/10324) of African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs61739410).

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