ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.200C>G (p.Thr67Arg) (rs7764472)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755425 SCV000605513 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000332978 SCV000340443 benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000398291 SCV000462722 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296887 SCV000462723 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing

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