ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3315C>T (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
GeneDx RCV000155644 SCV000513762 benign not specified 2016-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000558542 SCV000623589 likely benign Hypertrophic cardiomyopathy 2017-09-11 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155644 SCV000205353 likely benign not specified 2013-04-03 criteria provided, single submitter clinical testing Ala1105Ala in exon 30 of MYBPC3: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. The same synonymous variant resulting from a different DNA variant (3315C>A) has been identified in 2/8354 European American chromosomes by the NHLBI Exome Sequencing Project (; dbSNP rs200372325).

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