ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.816C>T (p.Ala272=)

gnomAD frequency: 0.00009  dbSNP: rs773819612
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001487251 SCV001691737 likely benign Cataract 13 with adult I phenotype 2019-07-11 criteria provided, single submitter clinical testing

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