ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4251C>T (p.Ile1417=) (rs397516307)

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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 RCV000036139 SCV000059791 likely benign not specified 2011-09-25 criteria provided, single submitter clinical testing Ile1417Ile in exon 32 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located ne ar a splice junction.

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