ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1555-15C>T (rs782573211)

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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 RCV000611743 SCV000712435 likely benign not specified 2016-10-06 criteria provided, single submitter clinical testing c.1555-15C>T in intron 13 of MYO7A: This variant is not expected to have clinica l significance because a C>T change at this position does not diverge from the s plice consensus sequence and is therefore unlikely to impact splicing. It has be en identified in 1/66118 European chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs782573211).

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