ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4728G>A (p.Lys1576=) (rs758921557)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000615222 SCV000710844 likely benign not specified 2017-09-14 criteria provided, single submitter clinical testing p.Lys1576Lys in exon 35 of MYOA7: 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. It has been identified in 15/126248 of Eur opean chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa dinstitute.org/; dbSNP rs758921557).

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