ClinVar Miner

Submissions for variant NM_001360.2(DHCR7):c.626+15G>A (rs736894)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000079657 SCV000603303 benign not specified 2016-10-12 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000079657 SCV000111540 benign not specified 2018-06-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340556 SCV000373918 likely benign Smith-Lemli-Opitz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000079657 SCV000966287 benign not specified 2016-03-21 criteria provided, single submitter clinical testing c.626+15G>A in intron 6 of DHCR7: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and has been identified in 47.31% (7809/16506) of South Asian chromosomes by the Exo me Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs736894) .
PreventionGenetics RCV000079657 SCV000307649 benign not specified criteria provided, single submitter clinical testing

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