ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.796C>T (p.Leu266Phe)

dbSNP: rs1420292012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Muenke lab, National Institutes of Health RCV000656537 SCV000778550 likely pathogenic Holoprosencephaly 3 2017-03-15 criteria provided, single submitter clinical testing

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