ClinVar Miner

Submissions for variant NM_013314.4(BLNK):c.205-15C>T

gnomAD frequency: 0.00027  dbSNP: rs199854336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333697 SCV001526357 uncertain significance Agammaglobulinemia 4, autosomal recessive 2018-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001333697 SCV002458210 likely benign Agammaglobulinemia 4, autosomal recessive 2024-01-25 criteria provided, single submitter clinical testing

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