ClinVar Miner

Submissions for variant NM_006017.3(PROM1):c.2309del (p.Pro770fs)

dbSNP: rs878853400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225433 SCV000282632 likely pathogenic Retinal dystrophy no assertion criteria provided clinical testing
Genomics England Pilot Project, Genomics England RCV001542528 SCV001760135 likely pathogenic Cone-rod dystrophy 12 no assertion criteria provided clinical testing

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