ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1567+22_1567+43del

dbSNP: rs541057516
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001513361 SCV001720964 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495794 SCV002797497 likely benign Complement component 2 deficiency; Age related macular degeneration 14 2021-10-20 criteria provided, single submitter clinical testing

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