ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1157_1180del (p.Leu386_Ala393del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289310 SCV002580028 uncertain significance Holoprosencephaly 3 2022-06-10 criteria provided, single submitter clinical testing

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