ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.440G>A (p.Ser147Asn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, University of Catania RCV004577985 SCV005061752 likely pathogenic Pontocerebellar hypoplasia type 2D 2024-06-18 criteria provided, single submitter clinical testing

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