ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10836C>A (p.Val3612=) (rs61276761)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041680 SCV000065376 benign not specified 2010-12-14 criteria provided, single submitter clinical testing Val3612Val in exon 55 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed in dbSNP (rs61276761, 5/50 Black chromosomes).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041680 SCV000231377 benign not specified 2014-09-15 criteria provided, single submitter clinical testing
Invitae RCV000955867 SCV001102600 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000955867 SCV001146594 benign not provided 2019-02-11 criteria provided, single submitter clinical testing

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