ClinVar Miner

Submissions for variant NM_005267.5(GJA8):c.1248G>T (p.Leu416=)

gnomAD frequency: 0.00016  dbSNP: rs200369834
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 RCV000872662 SCV001014513 benign Cataract 1 multiple types 2024-10-16 criteria provided, single submitter clinical testing

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