ClinVar Miner

Submissions for variant NM_000061.3(BTK):c.142-8C>T

gnomAD frequency: 0.00001  dbSNP: rs782365356
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000340012 SCV000344279 uncertain significance not provided 2016-08-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518102 SCV003481111 likely benign X-linked agammaglobulinemia with growth hormone deficiency 2022-05-27 criteria provided, single submitter clinical testing

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