ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=)

gnomAD frequency: 0.00004  dbSNP: rs753324402
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 RCV000926222 SCV001071782 likely benign not provided 2023-11-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825868 SCV002094909 likely benign Autosomal recessive osteopetrosis 1 2020-04-07 no assertion criteria provided clinical testing

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