ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=)

gnomAD frequency: 0.00001  dbSNP: rs780969471
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939805 SCV001085656 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000939805 SCV004137067 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing TCIRG1: BP4, BP7
Natera, Inc. RCV001271625 SCV001452911 uncertain significance Autosomal recessive osteopetrosis 1 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003913183 SCV004730360 likely benign TCIRG1-related disorder 2021-07-21 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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