ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys)

dbSNP: rs1855752104
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699264 SCV005205287 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279737 SCV001466858 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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