ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.4153-11C>T (rs727503330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672424 SCV000797528 uncertain significance Deafness, autosomal recessive 2; Usher syndrome, type 1 2018-02-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151506 SCV000199594 likely benign not specified 2014-07-01 criteria provided, single submitter clinical testing 4153-11C>T in intron 31 of MYO7A: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing.

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