ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2810A>T (p.Asp937Val)

dbSNP: rs550198026
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000377433 SCV000399304 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003765860 SCV004633434 likely benign not provided 2023-10-04 criteria provided, single submitter clinical testing

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