ClinVar Miner

Submissions for variant NM_001491.3(GCNT2):c.741G>A (p.Ala247=)

gnomAD frequency: 0.00009  dbSNP: rs200874437
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253573 SCV000307984 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000878452 SCV001021361 benign Cataract 13 with adult I phenotype 2019-10-18 criteria provided, single submitter clinical testing

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