ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=)

gnomAD frequency: 0.00040  dbSNP: rs200900947
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 RCV000905587 SCV001050175 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276543 SCV001462940 likely benign Autosomal recessive osteopetrosis 1 2020-05-20 no assertion criteria provided clinical testing

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