ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1292G>T (p.Gly431Val)

gnomAD frequency: 0.00002  dbSNP: rs751388655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665116 SCV000789182 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV001432840 SCV001635620 likely benign not provided 2022-03-26 criteria provided, single submitter clinical testing

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