ClinVar Miner

Submissions for variant NM_018344.6(SLC29A3):c.2T>A (p.Met1Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Molecular Genetics, Genome Genetics Laboratory RCV004698435 SCV004697500 likely pathogenic H syndrome 2023-06-10 no assertion criteria provided clinical testing

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