ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser)

gnomAD frequency: 0.00118  dbSNP: rs35354504
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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 RCV000928293 SCV001073902 benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273366 SCV001456348 benign Autosomal recessive osteopetrosis 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003978072 SCV004791462 likely benign TCIRG1-related disorder 2020-03-03 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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