ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.933C>T (p.Asp311=)

gnomAD frequency: 0.00003  dbSNP: rs587747861
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 RCV000930418 SCV001076071 likely benign Cataract 1 multiple types 2022-12-22 criteria provided, single submitter clinical testing

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