ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.72C>T (p.Ile24=) (rs397516334)

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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 RCV000036248 SCV000059900 likely benign not specified 2011-03-30 criteria provided, single submitter clinical testing The Ile24Ile variant in MYO7A has not been reported in the literature nor previo usly identified by our laboratory. This variant is not expected to have clinical significance since it does not alter an amino acid residue and is not located n ear a splice junction.

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