ClinVar Miner

Submissions for variant NM_174878.3(CLRN1):c.449T>C (p.Leu150Pro)

dbSNP: rs121908142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003466813 SCV004214404 likely pathogenic Retinitis pigmentosa 61 2023-09-27 criteria provided, single submitter clinical testing
OMIM RCV000004646 SCV000024820 pathogenic Usher syndrome type 3 2002-09-01 no assertion criteria provided literature only

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