ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)

dbSNP: rs794727562
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177654 SCV000229556 uncertain significance not provided 2014-06-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177654 SCV001709258 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing

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