ClinVar Miner

Submissions for variant NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr) (rs192401229)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194579 SCV000249036 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310610 SCV000450171 likely benign Bone marrow failure syndrome 1 2016-06-14 criteria provided, single submitter clinical testing

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