ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)

dbSNP: rs267606691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000124 SCV000020267 pathogenic Retinitis pigmentosa 54 2010-05-14 no assertion criteria provided literature only
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002905 SCV001160940 pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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