ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.387C>T (p.Ala129=)

gnomAD frequency: 0.00011  dbSNP: rs763756780
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 RCV000915342 SCV001060546 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276532 SCV001462923 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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