ClinVar Miner

Submissions for variant NM_022369.4(STRA6):c.1913G>C (p.Arg638Pro)

dbSNP: rs144691445
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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 RCV000207387 SCV000259169 pathogenic Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing rare variant, predicted damaging in silico (Polyphen-2, SIFT), compound heterozygosity

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