ClinVar Miner

Submissions for variant NM_032578.3(MYPN):c.2114C>T (p.Thr705Ile) (rs768471574)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620803 SCV000740260 uncertain significance Cardiovascular phenotype 2017-12-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000845328 SCV000987374 uncertain significance Primary familial hypertrophic cardiomyopathy criteria provided, single submitter clinical testing

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