ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.282G>A (p.Ala94=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005167108 SCV005804553 likely benign Holoprosencephaly 3 2024-07-31 criteria provided, single submitter clinical testing

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