ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.197-5C>T

gnomAD frequency: 0.00088  dbSNP: rs183885218
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178253 SCV000230300 uncertain significance not provided 2015-04-23 criteria provided, single submitter clinical testing
Invitae RCV000178253 SCV001073915 benign not provided 2024-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977460 SCV004794922 likely benign TCIRG1-related disorder 2022-02-04 criteria provided, single submitter 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).
Natera, Inc. RCV001274549 SCV001458804 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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