ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=)

gnomAD frequency: 0.00001  dbSNP: rs767700786
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 RCV001402010 SCV001603852 likely benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831427 SCV002094907 likely benign Autosomal recessive osteopetrosis 1 2021-06-01 no assertion criteria provided clinical testing

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