ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=)

gnomAD frequency: 0.00003  dbSNP: rs201017845
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 RCV001395847 SCV001597564 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279735 SCV001466856 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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