ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1731G>A (p.Pro577=)

gnomAD frequency: 0.00009  dbSNP: rs199572804
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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, Mass General Brigham Personalized Medicine RCV000041253 SCV000064944 likely benign not specified 2010-08-18 criteria provided, single submitter clinical testing Pro577Pro in exon 18 of USH1C: This silent variant is not expected to have clini cal significance because it does not alter an amino acid residue and is not loca ted near a splice junction.

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