ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.273G>A (p.Arg91=)

gnomAD frequency: 0.00046  dbSNP: rs149288560
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732125 SCV000860034 uncertain significance not provided 2018-03-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005213378 SCV005854237 benign Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2024-08-31 criteria provided, single submitter clinical testing

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