ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) (rs34447581)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000371237 SCV000340146 uncertain significance not provided 2016-04-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000339482 SCV000354144 uncertain significance Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405347 SCV000354145 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing

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