ClinVar Miner

Submissions for variant NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)

dbSNP: rs2115396737
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249196 SCV002517452 likely pathogenic Saethre-Chotzen syndrome 2022-05-04 criteria provided, single submitter clinical testing

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