ClinVar Miner

Submissions for variant NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) (rs727503400)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157456 SCV000207200 uncertain significance Primary familial hypertrophic cardiomyopathy 2013-11-18 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151762 SCV000200166 uncertain significance not specified 2014-08-07 criteria provided, single submitter clinical testing The Asn1669Ser variant in RYR2 has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Asn1669Ser varia nt is uncertain.

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