ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.520_521delinsAT (p.Ala174Met)

dbSNP: rs1555903974
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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 RCV000648332 SCV000770148 benign Agammaglobulinemia 2, autosomal recessive 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000648332 SCV002805859 likely benign Agammaglobulinemia 2, autosomal recessive 2021-08-02 criteria provided, single submitter clinical testing

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