ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.942G>A (p.Thr314=)

gnomAD frequency: 0.00015  dbSNP: rs764846667
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503818 SCV001708678 likely benign not provided 2024-01-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836423 SCV002094905 likely benign Autosomal recessive osteopetrosis 1 2021-06-17 no assertion criteria provided clinical testing

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