ClinVar Miner

Submissions for variant NM_012469.4(PRPF6):c.1797G>A (p.Arg599=)

gnomAD frequency: 0.00094  dbSNP: rs145483312
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000309139 SCV000332797 uncertain significance not provided 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000309139 SCV001724510 benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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