ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1461C>G (p.Leu487=)

dbSNP: rs148353051
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519867 SCV001728826 benign not provided 2024-11-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519867 SCV005312776 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001519867 SCV001919734 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001519867 SCV001965165 likely benign not provided no assertion criteria provided clinical testing

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