ClinVar Miner

Submissions for variant NM_003412.4(ZIC1):c.789C>T (p.Gly263=)

gnomAD frequency: 0.00830  dbSNP: rs142534672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000893619 SCV001037571 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000893619 SCV001822367 likely benign not provided 2021-02-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000893619 SCV005260860 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003930848 SCV004739068 benign ZIC1-related disorder 2019-10-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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