ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.540G>A (p.Ser180=)

gnomAD frequency: 0.00035  dbSNP: rs148941732
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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) RCV000304803 SCV000341376 uncertain significance not provided 2016-05-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000304803 SCV002358955 benign not provided 2023-12-19 criteria provided, single submitter clinical testing

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