ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1587C>T (p.Asn529=)

gnomAD frequency: 0.00014  dbSNP: rs372325609
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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, Mass General Brigham Personalized Medicine RCV000155229 SCV000204915 likely benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn529Asn in Exon 14 of MYO7A: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (3/3632) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS).
Invitae RCV000977245 SCV001125159 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing

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