ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2655+12G>A (rs727504552)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155714 SCV000205424 likely benign not specified 2013-07-23 criteria provided, single submitter clinical testing 2655+12G>A in Intron 26 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved region of the splice consensus sequence.
Counsyl RCV000666930 SCV000791305 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-10-04 criteria provided, single submitter clinical testing

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