ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1887+131G>A

gnomAD frequency: 0.00069  dbSNP: rs78820476
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279731 SCV001466850 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003945960 SCV004769979 likely benign TCIRG1-related disorder 2019-03-05 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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