ClinVar Miner

Submissions for variant NM_003741.4(CHRD):c.1370C>G (p.Thr457Ser)

gnomAD frequency: 0.00048  dbSNP: rs145871696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207411 SCV000259144 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710584 SCV005263017 likely benign not provided criteria provided, single submitter not provided

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