ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.381C>T (p.Leu127=)

gnomAD frequency: 0.00001  dbSNP: rs1266423367
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001403069 SCV001604930 likely benign not provided 2022-08-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826200 SCV002094898 likely benign Autosomal recessive osteopetrosis 1 2021-05-25 no assertion criteria provided clinical testing

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