ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.206-9C>T

gnomAD frequency: 0.00046  dbSNP: rs367757020
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735121 SCV000863321 likely benign not specified 2018-09-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060355 SCV002356266 benign Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2021-11-30 criteria provided, single submitter clinical testing
GeneDx RCV000544225 SCV002575248 likely benign not provided 2019-03-28 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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