ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5481-15C>T (rs727504955)

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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 RCV000156358 SCV000206076 likely benign not specified 2014-02-07 criteria provided, single submitter clinical testing 5481-15C>T in Intron 39 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence and computational tools do not suggest an impact to splicing.

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