ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1872G>A (p.Ser624=) (rs80124409)

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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 RCV000041260 SCV000064951 benign not specified 2011-05-04 criteria provided, single submitter clinical testing Ser624Ser in exon 18 of USH1C: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located near a splice junction and has been identified in dbSNP in 3.6% (6/168) West African c ontrol chromosomes (rs80124409)
GeneDx RCV000041260 SCV000730465 benign not specified 2017-10-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000969060 SCV001116551 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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