ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1374+9C>T

gnomAD frequency: 0.00009  dbSNP: rs727504108
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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) RCV000153775 SCV000203351 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000153775 SCV002971029 likely benign not provided 2024-12-23 criteria provided, single submitter clinical testing

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