ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1798-11C>T (rs782146561)

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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 RCV000610295 SCV000731814 likely benign not specified 2017-08-03 criteria provided, single submitter clinical testing c.1798-11C>T in intron 15 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 12/74308 European chromosomes by the Genome Aggregation Databas e (gnomAD,; dbSNP rs782146561).

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