ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)

dbSNP: rs1233729947
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001277782 SCV001464751 uncertain significance Pontocerebellar hypoplasia type 2D 2020-04-21 no assertion criteria provided clinical testing

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