ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) (rs200372325)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771378 SCV000903680 benign Cardiomyopathy 2018-07-29 criteria provided, single submitter clinical testing
Invitae RCV000629112 SCV000750026 benign Hypertrophic cardiomyopathy 2017-11-30 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035577 SCV000059227 likely benign not specified 2010-11-30 criteria provided, single submitter clinical testing This variant is not expected to have clinical significance because it does not a lter an amino acid residue and is not located near a splice junction. Therefore, it is unlikely that this variant is disease-causing.

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