ClinVar Miner

Submissions for variant NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=)

gnomAD frequency: 0.00005  dbSNP: rs753995574
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002634 SCV001160617 likely benign Retinitis pigmentosa 13 2019-06-19 criteria provided, single submitter clinical testing

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