ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1629C>T (p.Val543=)

gnomAD frequency: 0.00006  dbSNP: rs367732638
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 RCV000976475 SCV001124378 likely benign not provided 2023-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279344 SCV001466432 likely benign Autosomal recessive osteopetrosis 1 2020-11-12 no assertion criteria provided clinical testing

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