ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2118+10G>A

gnomAD frequency: 0.00003  dbSNP: rs775491643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929070 SCV001074694 likely benign not provided 2023-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832104 SCV002094926 likely benign Autosomal recessive osteopetrosis 1 2020-09-26 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003895652 SCV004716613 likely benign TCIRG1-related disorder 2020-10-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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