ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.783G>C (p.Lys261Asn) (rs2064318)

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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 RCV000755424 SCV000605512 benign not provided 2017-05-02 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080090 SCV000111985 benign not specified 2013-08-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317728 SCV000462706 benign Retinitis Pigmentosa, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353881 SCV000462707 benign Leber congenital amaurosis 2016-06-14 criteria provided, single submitter clinical testing

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