ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.726C>T (p.His242=)

gnomAD frequency: 0.00004  dbSNP: rs1054033489
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 RCV000895104 SCV001039125 likely benign not provided 2023-10-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276538 SCV001462930 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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