ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1321G>A (p.Gly441Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Solve-RD Consortium RCV004767621 SCV005091403 likely pathogenic Pontocerebellar hypoplasia type 2D 2022-06-01 no assertion criteria provided provider interpretation Variant confirmed as disease-causing by referring clinical team

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