ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2332A>C (p.Thr778Pro)

dbSNP: rs869025270
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207370 SCV000259171 likely pathogenic Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing rare variant, functional studies demonstrating is deleterious effect on protein.

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