ClinVar Miner

Submissions for variant NM_173485.6(TSHZ2):c.1289A>T (p.Gln430Leu)

dbSNP: rs778769992
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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 RCV000207396 SCV000259158 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing

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