ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2418C>T (p.Asn806=) (rs397517876)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041277 SCV000064968 likely benign not specified 2013-02-22 criteria provided, single submitter clinical testing Asn806Asn in exon 24 of USH1C: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Counsyl RCV000667965 SCV000792497 likely benign Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-06-26 criteria provided, single submitter clinical testing
Invitae RCV001452232 SCV001655889 likely benign not provided 2019-09-05 criteria provided, single submitter clinical testing

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