ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1374+569C>G

dbSNP: rs2146453060
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542615 SCV001760458 likely pathogenic Retinitis pigmentosa 11 no assertion criteria provided clinical testing

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