ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5019C>T (p.Ile1673=) (rs139518691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000216264 SCV000270461 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing p.Ile1673Ile in exon 35 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 3/277160 chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs139518691). ACMG/AMP Criteria applied: BP4, BP7.
Invitae RCV000533435 SCV000623730 likely benign Hypertrophic cardiomyopathy 2017-12-19 criteria provided, single submitter clinical testing

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