ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)

dbSNP: rs534950651
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730049 SCV000857758 uncertain significance not provided 2017-11-07 criteria provided, single submitter clinical testing
Invitae RCV000730049 SCV001632411 likely benign not provided 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279342 SCV001466430 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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