ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.14091-11del (rs35563566)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036691 SCV000235026 benign not specified 2012-04-18 criteria provided, single submitter clinical testing The variant is found in ARVC panel(s).
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036691 SCV000060346 likely benign not specified 2011-09-16 criteria provided, single submitter clinical testing 14091-11delT in intron 97 of RYR2: This variant is not expected to have clinical significance because it is located outside the conserved +/- 1, 2 region of the splicing consensus sequence and as part of a polyT stretch. This variant has b een reported in dbSNP (rs72027983 & rs55683196) without frequency information.

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