ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1255dup (p.Ala419fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV004576167 SCV005051979 likely pathogenic Autosomal recessive osteopetrosis 1 2024-02-01 criteria provided, single submitter curation

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