ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)

dbSNP: rs371505143
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858610 SCV002266933 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000985061 SCV002780728 uncertain significance Autosomal recessive osteopetrosis 1 2022-04-12 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985061 SCV001133005 uncertain significance Autosomal recessive osteopetrosis 1 2019-09-15 no assertion criteria provided clinical testing

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